ClinVar Miner

List of variants studied for WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter) rs1554791943
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs) rs1554792658

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