ClinVar Miner

List of variants in gene CHD4 reported by Ambry Genetics

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001273.5(CHD4):c.5002G>C (p.Glu1668Gln) rs201047688 0.00042
NM_001273.5(CHD4):c.800-3T>C rs746196724 0.00010
NM_001273.5(CHD4):c.4544G>A (p.Arg1515His) rs963028335 0.00006
NM_001273.5(CHD4):c.2025-3T>C rs370071477 0.00005
NM_001273.5(CHD4):c.1547C>T (p.Pro516Leu)
NM_001273.5(CHD4):c.172A>G (p.Lys58Glu)
NM_001273.5(CHD4):c.1832G>A (p.Arg611His)
NM_001273.5(CHD4):c.186C>G (p.Asp62Glu)
NM_001273.5(CHD4):c.196C>T (p.Pro66Ser)
NM_001273.5(CHD4):c.2135A>G (p.Tyr712Cys)
NM_001273.5(CHD4):c.2228A>G (p.Gln743Arg)
NM_001273.5(CHD4):c.223C>T (p.Arg75Cys)
NM_001273.5(CHD4):c.3048G>T (p.Lys1016Asn) rs1948408037
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His) rs886039915
NM_001273.5(CHD4):c.332C>T (p.Thr111Ile)
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln) rs886039918
NM_001273.5(CHD4):c.3659A>C (p.Lys1220Thr) rs1377989582
NM_001273.5(CHD4):c.3736G>A (p.Val1246Ile)
NM_001273.5(CHD4):c.3943G>C (p.Glu1315Gln)
NM_001273.5(CHD4):c.397A>G (p.Lys133Glu)
NM_001273.5(CHD4):c.417_422del (p.Glu139_Asp140del)
NM_001273.5(CHD4):c.441G>T (p.Glu147Asp)
NM_001273.5(CHD4):c.4543C>T (p.Arg1515Cys)
NM_001273.5(CHD4):c.4657A>G (p.Thr1553Ala)
NM_001273.5(CHD4):c.4873G>A (p.Glu1625Lys)
NM_001273.5(CHD4):c.4909+1G>A
NM_001273.5(CHD4):c.4960C>A (p.Pro1654Thr) rs754279009
NM_001273.5(CHD4):c.496G>A (p.Val166Met)
NM_001273.5(CHD4):c.5153C>T (p.Ala1718Val)
NM_001273.5(CHD4):c.5285A>G (p.Asn1762Ser)
NM_001273.5(CHD4):c.754C>T (p.Pro252Ser)
NM_001273.5(CHD4):c.767C>T (p.Pro256Leu)
NM_001273.5(CHD4):c.76A>G (p.Asn26Asp)
NM_001273.5(CHD4):c.82C>G (p.Leu28Val)
NM_001273.5(CHD4):c.832C>T (p.Pro278Ser)

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