ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.1117T>C (p.Cys373Arg)
NM_001273.5(CHD4):c.1895_1896del
NM_001273.5(CHD4):c.2189A>G (p.Gln730Arg) rs1948453702
NM_001273.5(CHD4):c.2313+2T>C rs751534948
NM_001273.5(CHD4):c.2366A>G (p.Asn789Ser)
NM_001273.5(CHD4):c.2366A>T (p.Asn789Ile) rs1948436363
NM_001273.5(CHD4):c.2507G>A (p.Arg836His)
NM_001273.5(CHD4):c.2648C>T (p.Ser883Phe) rs2136215102
NM_001273.5(CHD4):c.2921_2922del (p.Val974fs)
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser) rs1592273799
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)
NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)
NM_001273.5(CHD4):c.3338A>G (p.Asn1113Ser)
NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val) rs1592270989
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro) rs1948336129
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp) rs1948327010
NM_001273.5(CHD4):c.3529C>T (p.Arg1177Cys) rs2136209186
NM_001273.5(CHD4):c.3539T>G (p.Val1180Gly) rs1948326612
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys) rs2136209158
NM_001273.5(CHD4):c.3548G>A (p.Arg1183His) rs1948326461
NM_001273.5(CHD4):c.3653T>C (p.Ile1218Thr)
NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp) rs1060499583
NM_001273.5(CHD4):c.4003A>C (p.Lys1335Gln)
NM_001273.5(CHD4):c.637A>G (p.Ser213Gly) rs1948590484
NM_001273.5(CHD4):c.997G>T (p.Asp333Tyr)

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