C5676934[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1343942	NM_013975.4(LIG3):c.86G>A (p.Trp29Ter)	LIG3 (W29*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343938	NM_013975.4(LIG3):c.799C>T (p.Arg267Ter)	LIG3	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1343935	NM_013975.4(LIG3):c.1611G>C (p.Lys537Asn)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343941	NM_013975.4(LIG3):c.1611+209G>A	LIG3	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343939	NM_013975.4(LIG3):c.1826C>T (p.Pro609Leu)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343940	NM_013975.4(LIG3):c.2431C>T (p.Arg811Ter)	LIG3	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343936	NM_013975.4(LIG3):c.2890G>C (p.Gly964Arg)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic
Select item 1343937	NM_013975.4(LIG3):c.2996G>A (p.Cys999Tyr)	LIG3	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 20 (mngie type)	GPathogenic

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