ClinVar Miner

List of variants studied for oculodentodigital dysplasia, autosomal recessive by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Autosomal dominant palmoplantar keratoderma and congenital alopecia; Atrioventricular septal defect and common atrioventricular junction; Craniometaphyseal dysplasia, autosomal recessive; Hypoplastic left heart syndrome 1; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3
Oculodentodigital dysplasia, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile)	rs184583316	0.00017
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)	rs1554200992
NM_000165.5(GJA1):c.932del (p.Ala311fs)	rs778110855

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