ClinVar Miner

List of variants reported as likely pathogenic for Sifrim-Hitz-Weiss syndrome

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Total variants: 12
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HGVS dbSNP
NM_001273.5(CHD4):c.2189A>G (p.Gln730Arg)
NM_001273.5(CHD4):c.2366A>T (p.Asn789Ile)
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser) rs1592273799
NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)
NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val) rs1592270989
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro)
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp)
NM_001273.5(CHD4):c.3539T>G (p.Val1180Gly)
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys)
NM_001273.5(CHD4):c.3548G>A (p.Arg1183His)
NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp) rs1060499583
NM_001273.5(CHD4):c.637A>G (p.Ser213Gly)

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