ClinVar Miner

List of variants in gene CHD8 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001170629.2(CHD8):c.6207G>A (p.Ser2069=) rs370827611 0.00080
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836 0.00037
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.6312G>A (p.Glu2104=) rs118140634 0.00030
NM_001170629.2(CHD8):c.5817C>T (p.Arg1939=) rs140310602 0.00029
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His) rs199908540 0.00022
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001170629.2(CHD8):c.4752A>G (p.Leu1584=) rs61756311 0.00019
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) rs200566427 0.00019
NM_001170629.2(CHD8):c.6402T>C (p.Asp2134=) rs371884365 0.00011
NM_001170629.2(CHD8):c.5214C>T (p.Phe1738=) rs532921100 0.00010
NM_001170629.2(CHD8):c.1473C>T (p.Ser491=) rs373467208 0.00009
NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_001170629.2(CHD8):c.4896G>A (p.Ser1632=) rs151289731 0.00006
NM_001170629.2(CHD8):c.5265G>A (p.Ala1755=) rs374201033 0.00006
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His) rs779590262 0.00005
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.3126A>G (p.Ala1042=) rs773109422 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001170629.2(CHD8):c.6405A>G (p.Gly2135=) rs745467579 0.00003
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.7493A>C (p.His2498Pro) rs1174920611 0.00003
NM_001170629.2(CHD8):c.2016C>T (p.Tyr672=) rs992446349 0.00002
NM_001170629.2(CHD8):c.2229C>T (p.Pro743=) rs766074272 0.00002
NM_001170629.2(CHD8):c.4483C>T (p.Arg1495Cys) rs766456579 0.00002
NM_001170629.2(CHD8):c.4935T>C (p.Tyr1645=) rs376726906 0.00002
NM_001170629.2(CHD8):c.5820T>C (p.His1940=) rs750311902 0.00002
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.2700A>G (p.Gln900=) rs768170046 0.00001
NM_001170629.2(CHD8):c.621C>T (p.Thr207=) rs370423608 0.00001
NM_001170629.2(CHD8):c.6248C>T (p.Ser2083Phe) rs545239905 0.00001
NM_001170629.2(CHD8):c.-5C>T
NM_001170629.2(CHD8):c.1203A>G (p.Val401=)
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
NM_001170629.2(CHD8):c.1425C>T (p.Arg475=)
NM_001170629.2(CHD8):c.1573T>C (p.Ser525Pro) rs771409666
NM_001170629.2(CHD8):c.1581A>T (p.Thr527=)
NM_001170629.2(CHD8):c.1689T>A (p.Pro563=) rs1566441828
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.1973C>T (p.Pro658Leu)
NM_001170629.2(CHD8):c.228A>G (p.Thr76=)
NM_001170629.2(CHD8):c.2330G>A (p.Arg777Gln)
NM_001170629.2(CHD8):c.2577T>C (p.His859=) rs747598027
NM_001170629.2(CHD8):c.2646A>C (p.Thr882=)
NM_001170629.2(CHD8):c.2670T>C (p.His890=)
NM_001170629.2(CHD8):c.2684G>A (p.Ser895Asn)
NM_001170629.2(CHD8):c.2748C>T (p.Gly916=)
NM_001170629.2(CHD8):c.3213C>T (p.Phe1071=)
NM_001170629.2(CHD8):c.321A>G (p.Gln107=)
NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)
NM_001170629.2(CHD8):c.3393A>C (p.Ser1131=) rs1566423758
NM_001170629.2(CHD8):c.371A>G (p.Lys124Arg)
NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)
NM_001170629.2(CHD8):c.3888A>G (p.Gln1296=)
NM_001170629.2(CHD8):c.4344G>A (p.Arg1448=) rs1566420954
NM_001170629.2(CHD8):c.4788A>G (p.Ala1596=)
NM_001170629.2(CHD8):c.4808C>T (p.Ala1603Val)
NM_001170629.2(CHD8):c.5175A>T (p.Gly1725=) rs1428138381
NM_001170629.2(CHD8):c.5712C>A (p.Pro1904=) rs373139827
NM_001170629.2(CHD8):c.5713C>T (p.Leu1905Phe)
NM_001170629.2(CHD8):c.5720A>G (p.Glu1907Gly)
NM_001170629.2(CHD8):c.5974C>T (p.Arg1992Cys)
NM_001170629.2(CHD8):c.6099G>A (p.Arg2033=)
NM_001170629.2(CHD8):c.6167G>A (p.Arg2056Gln)
NM_001170629.2(CHD8):c.6222C>T (p.Asp2074=)
NM_001170629.2(CHD8):c.6318A>G (p.Leu2106=) rs1566412548
NM_001170629.2(CHD8):c.680A>G (p.Lys227Arg)
NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)
NM_001170629.2(CHD8):c.7230T>A (p.Ile2410=)
NM_001170629.2(CHD8):c.7337C>T (p.Thr2446Met)
NM_001170629.2(CHD8):c.7497C>T (p.Pro2499=)
NM_001170629.2(CHD8):c.7506CCATCACCA[3] (p.His2508_Pro2509insHisHisHis)
NM_001170629.2(CHD8):c.844-3T>C
NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg) rs1566444686

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