ClinVar Miner

List of variants studied for Sifrim-Hitz-Weiss syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 6
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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.2552C>A (p.Ser851Tyr) rs886039916
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His) rs886039915
NM_001273.5(CHD4):c.3380G>A (p.Arg1127Gln) rs886039917
NM_001273.5(CHD4):c.3443G>T (p.Trp1148Leu) rs886039919
NM_001273.5(CHD4):c.3518G>T (p.Arg1173Leu) rs886039918

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