"Baylor Genetics"[submitter] AND "TFRC"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031313	NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met)	TFRC (T447M +2 more)	Single nucleotide variant (missense variant)	TFRC-related combined immunodeficiency +1 more	GUncertain significance
Select item 1028097	NM_001128148.3(TFRC):c.1678-3C>T	TFRC	Single nucleotide variant (intron variant)	TFRC-related combined immunodeficiency +1 more	GUncertain significance
Select item 1028096	NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg)	TFRC (K112R +2 more)	Single nucleotide variant (missense variant)	TFRC-related combined immunodeficiency	GUncertain significance
Select item 1033985	NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser)	TFRC (N379S +2 more)	Single nucleotide variant (missense variant)	TFRC-related combined immunodeficiency +1 more	GUncertain significance
Select item 1028098	NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro)	TFRC (R74P +1 more)	Single nucleotide variant (missense variant +1 more)	TFRC-related combined immunodeficiency +1 more	GUncertain significance

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