ClinVar Miner

List of variants in gene CHD4 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.5292T>C (p.Pro1764=) rs71584868 0.00534
NM_001273.5(CHD4):c.5217C>T (p.Ala1739=) rs34509399 0.00129
NM_001273.5(CHD4):c.2238C>T (p.Asp746=) rs141301378 0.00101
NM_001273.5(CHD4):c.1992C>T (p.Tyr664=) rs116849726 0.00089
NM_001273.5(CHD4):c.101-5T>A rs201854884 0.00046
NM_001273.5(CHD4):c.5529C>T (p.Asn1843=) rs201751048 0.00026
NM_001273.5(CHD4):c.3747C>T (p.Tyr1249=) rs150806437 0.00005
NM_001273.5(CHD4):c.371A>G (p.Lys124Arg) rs371268726 0.00003
NM_001273.5(CHD4):c.1353C>T (p.Phe451=) rs778512761 0.00002
NM_001273.5(CHD4):c.800-8G>C rs368067995 0.00002
NM_001273.5(CHD4):c.797A>G (p.Lys266Arg) rs1478217768 0.00001
NM_001273.5(CHD4):c.1053_1055del (p.Lys354del) rs2136223748
NM_001273.5(CHD4):c.1119C>T (p.Cys373=)
NM_001273.5(CHD4):c.1336G>A (p.Asp446Asn) rs1555174358
NM_001273.5(CHD4):c.2249C>T (p.Ala750Val) rs1555171299
NM_001273.5(CHD4):c.245T>C (p.Leu82Pro)
NM_001273.5(CHD4):c.249G>T (p.Gly83=)
NM_001273.5(CHD4):c.2514+8_2514+9del
NM_001273.5(CHD4):c.279GGA[5] (p.Glu98_Val99insGlu)
NM_001273.5(CHD4):c.3109A>G (p.Asn1037Asp) rs1948405987
NM_001273.5(CHD4):c.3222+7T>C
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3530G>A (p.Arg1177His) rs2136209181
NM_001273.5(CHD4):c.4060+40C>G
NM_001273.5(CHD4):c.4061-25G>C
NM_001273.5(CHD4):c.418GAT[4] (p.Asp144del)
NM_001273.5(CHD4):c.4834C>T (p.Pro1612Ser)
NM_001273.5(CHD4):c.5084G>A (p.Arg1695His)
NM_001273.5(CHD4):c.5119+59G>T
NM_001273.5(CHD4):c.5669G>A (p.Arg1890His)
NM_001273.5(CHD4):c.5711C>T (p.Thr1904Ile)
NM_001273.5(CHD4):c.5C>T (p.Ala2Val) rs1565622346

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