ClinVar for MedGen (Select 925090) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524201	NM_148923.4(CYB5A):c.131A>T (p.His44Leu)	CYB5A (H44L)	Single nucleotide variant (missense variant)	Methemoglobinemia type 4	GLikely pathogenic
Select item 524200	NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter)	CYB5A, LOC132090521 (W27*)	Single nucleotide variant (nonsense)	Methemoglobinemia type 4	GLikely pathogenic
Select item 230	NM_148923.4(CYB5A):c.130-2A>G	CYB5A	Single nucleotide variant (splice acceptor variant)	Methemoglobinemia type 4	GPathogenic

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