ClinVar Miner

List of variants reported as uncertain significance for Sifrim-Hitz-Weiss syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys) rs1948434895
NM_001273.5(CHD4):c.4674A>G (p.Pro1558=) rs1948192528

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