ClinVar Miner

List of variants in gene CHD4 studied for Sifrim-Hitz-Weiss syndrome

Included ClinVar conditions (1):
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.417G>T (p.Glu139Asp) rs1639122 0.54444
NM_001273.5(CHD4):c.1362C>T (p.Val454=) rs11539542 0.13722
NM_001273.5(CHD4):c.1548C>T (p.Pro516=) rs11539543 0.13698
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=) rs71584868 0.00534
NM_001273.5(CHD4):c.239G>A (p.Arg80Gln) rs751585626 0.00049
NM_001273.5(CHD4):c.5529C>T (p.Asn1843=) rs201751048 0.00026
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.1117T>C (p.Cys373Arg)
NM_001273.5(CHD4):c.1573G>A (p.Ala525Thr)
NM_001273.5(CHD4):c.1822A>T (p.Met608Leu)
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.2438G>A (p.Arg813His) rs2136215523
NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys) rs1948434895
NM_001273.5(CHD4):c.2507G>A (p.Arg836His)
NM_001273.5(CHD4):c.2552C>A (p.Ser851Tyr) rs886039916
NM_001273.5(CHD4):c.2569A>T (p.Ile857Phe)
NM_001273.5(CHD4):c.257C>T (p.Ser86Phe)
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.2993A>T (p.Asn998Ile)
NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)
NM_001273.5(CHD4):c.304C>T (p.Arg102Cys)
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His) rs886039915
NM_001273.5(CHD4):c.3252T>G (p.Asp1084Glu)
NM_001273.5(CHD4):c.3280G>A (p.Glu1094Lys)
NM_001273.5(CHD4):c.3308A>C (p.Asn1103Thr) rs1948400115
NM_001273.5(CHD4):c.3338A>G (p.Asn1113Ser)
NM_001273.5(CHD4):c.3380G>A (p.Arg1127Gln) rs886039917
NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val) rs1592270989
NM_001273.5(CHD4):c.3407C>T (p.Ala1136Val)
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro) rs1948336129
NM_001273.5(CHD4):c.3443G>T (p.Trp1148Leu) rs886039919
NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp) rs1948327010
NM_001273.5(CHD4):c.3518G>T (p.Arg1173Leu) rs886039918
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.3977A>T (p.Gln1326Leu) rs1274210289
NM_001273.5(CHD4):c.4003A>C (p.Lys1335Gln)
NM_001273.5(CHD4):c.4018C>T (p.Arg1340Cys)
NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)
NM_001273.5(CHD4):c.4165C>A (p.Arg1389Ser)
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.637A>G (p.Ser213Gly) rs1948590484
NM_001273.5(CHD4):c.809C>T (p.Ala270Val)
NM_001273.5(CHD4):c.995C>T (p.Ser332Phe)
NM_001273.5(CHD4):c.997G>T (p.Asp333Tyr)

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