ClinVar Miner

List of variants in gene CHD8 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=) rs61741241 0.00297
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.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.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836 0.00037
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.7431G>A (p.Met2477Ile) rs375405457 0.00024
NM_001170629.2(CHD8):c.1601+29C>T rs375282372 0.00022
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His) rs199908540 0.00022
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.5665C>T (p.Arg1889Cys) rs201802014 0.00016
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=) rs898418482 0.00002
NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=) rs200180762 0.00002
NM_001170629.2(CHD8):c.852G>A (p.Ser284=) rs765203840 0.00002
NM_001170629.2(CHD8):c.2364+2T>C rs748109741 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)
NM_001170629.2(CHD8):c.2403A>G (p.Leu801=)
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.2735G>A (p.Arg912His)
NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter) rs1888277745
NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter) rs1555315488
NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter) rs1888229658
NM_001170629.2(CHD8):c.3492C>T (p.Ile1164=) rs748583001
NM_001170629.2(CHD8):c.3514A>G (p.Arg1172Gly)
NM_001170629.2(CHD8):c.3772A>C (p.Ile1258Leu) rs1888076992
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5336G>A (p.Arg1779His)
NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
NM_001170629.2(CHD8):c.5475T>C (p.His1825=)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5561G>A (p.Cys1854Tyr) rs2139448400
NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)
NM_001170629.2(CHD8):c.6466A>G (p.Lys2156Glu) rs1555313139
NM_001170629.2(CHD8):c.7252C>T (p.Arg2418Trp)
NM_001170629.2(CHD8):c.7291G>A (p.Ala2431Thr)
NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)

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