ClinVar Miner

List of variants in gene CHD4 reported as uncertain significance for Sifrim-Hitz-Weiss syndrome

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.239G>A (p.Arg80Gln) rs751585626 0.00049
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001273.5(CHD4):c.4507C>T (p.Arg1503Cys) rs1438928727 0.00001
NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala) rs1366977058 0.00001
NM_001273.5(CHD4):c.5411A>G (p.Tyr1804Cys) rs1212836850 0.00001
NM_001273.5(CHD4):c.5507C>G (p.Ser1836Cys) rs770801247 0.00001
NM_001273.5(CHD4):c.100+11C>G rs1232426437
NM_001273.5(CHD4):c.1075G>A (p.Val359Met)
NM_001273.5(CHD4):c.1573G>A (p.Ala525Thr)
NM_001273.5(CHD4):c.1822A>T (p.Met608Leu)
NM_001273.5(CHD4):c.2438G>A (p.Arg813His) rs2136215523
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys) rs1948434895
NM_001273.5(CHD4):c.2569A>T (p.Ile857Phe)
NM_001273.5(CHD4):c.257C>T (p.Ser86Phe)
NM_001273.5(CHD4):c.2993A>T (p.Asn998Ile)
NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)
NM_001273.5(CHD4):c.3308A>C (p.Asn1103Thr) rs1948400115
NM_001273.5(CHD4):c.3407C>T (p.Ala1136Val)
NM_001273.5(CHD4):c.3977A>T (p.Gln1326Leu) rs1274210289
NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)
NM_001273.5(CHD4):c.4165C>A (p.Arg1389Ser)
NM_001273.5(CHD4):c.4370+5G>A
NM_001273.5(CHD4):c.446A>T (p.Lys149Ile) rs1948594914
NM_001273.5(CHD4):c.4612C>T (p.Pro1538Ser)
NM_001273.5(CHD4):c.4621C>G (p.Pro1541Ala)
NM_001273.5(CHD4):c.4674A>G (p.Pro1558=) rs1948192528
NM_001273.5(CHD4):c.4780T>C (p.Cys1594Arg) rs1948181408
NM_001273.5(CHD4):c.4810G>A (p.Asp1604Asn)
NM_001273.5(CHD4):c.4883_4884del (p.Glu1628fs)
NM_001273.5(CHD4):c.4982-11A>G rs760621559
NM_001273.5(CHD4):c.5119+6G>C
NM_001273.5(CHD4):c.5432C>T (p.Pro1811Leu)
NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)
NM_001273.5(CHD4):c.5669G>T (p.Arg1890Leu) rs201121936
NM_001273.5(CHD4):c.809C>T (p.Ala270Val)
NM_001273.5(CHD4):c.995C>T (p.Ser332Phe)

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