ClinVar Miner

List of variants in gene CHD8 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3477G>A (p.Val1159=) rs8022395 0.92426
NM_001170629.2(CHD8):c.172G>A (p.Val58Met) rs10467770 0.25299
NM_001170629.2(CHD8):c.5007A>G (p.Ala1669=) rs61752837 0.02585
NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=) rs61748933 0.01650
NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=) rs61756312 0.01457
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00579
NM_001170629.2(CHD8):c.5121T>C (p.Asp1707=) rs61729945 0.00441
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.145A>G (p.Met49Val) rs181830482 0.00300
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.6650G>A (p.Arg2217Gln) rs149307240 0.00125
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.6243T>A (p.Ser2081=) rs201856289 0.00075
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.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr) rs551653039 0.00041
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.6232C>T (p.Leu2078=) rs188900504 0.00028
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.5683C>T (p.Arg1895Cys) rs200514547 0.00013
NM_001170629.2(CHD8):c.7496C>A (p.Pro2499His) rs1212151127 0.00013
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.7229T>C (p.Ile2410Thr) rs765016238 0.00007
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.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.2318G>A (p.Arg773Gln) rs763874660 0.00005
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His) rs779590262 0.00005
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.7675A>G (p.Arg2559Gly) rs563339561 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.5816G>A (p.Arg1939His) rs751815253 0.00003
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_001170629.2(CHD8):c.6344A>G (p.Tyr2115Cys) rs201035068 0.00003
NM_001170629.2(CHD8):c.6373A>G (p.Met2125Val) rs377109513 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.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.7493A>C (p.His2498Pro) rs1174920611 0.00003
NM_001170629.2(CHD8):c.1477C>T (p.Arg493Trp) rs774630592 0.00002
NM_001170629.2(CHD8):c.1562C>T (p.Thr521Ile) rs779470673 0.00002
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.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.4462G>C (p.Val1488Leu) rs754553508 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.-1G>A rs375043337 0.00001
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.21T>G (p.Asp7Glu) rs769940681 0.00001
NM_001170629.2(CHD8):c.2700A>G (p.Gln900=) rs768170046 0.00001
NM_001170629.2(CHD8):c.3275G>A (p.Arg1092His) rs1215755967 0.00001
NM_001170629.2(CHD8):c.5224G>T (p.Gly1742Cys) rs1405068764 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.5390+6A>G rs778452195 0.00001
NM_001170629.2(CHD8):c.6206C>T (p.Ser2069Leu) rs200858701 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.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.7G>A (p.Asp3Asn) rs778721199 0.00001
NM_001170629.1(CHD8):c.5053delG
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.1339G>C (p.Glu447Gln)
NM_001170629.2(CHD8):c.1343A>G (p.Glu448Gly) rs1566443647
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.158G>C (p.Gly53Ala)
NM_001170629.2(CHD8):c.1689T>A (p.Pro563=) rs1566441828
NM_001170629.2(CHD8):c.1691G>C (p.Arg564Pro)
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter) rs1888700404
NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del) rs757502536
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.1829C>G (p.Pro610Arg) rs1566433762
NM_001170629.2(CHD8):c.1848A>T (p.Glu616Asp) rs1566433722
NM_001170629.2(CHD8):c.1952G>A (p.Arg651Gln)
NM_001170629.2(CHD8):c.1973C>T (p.Pro658Leu)
NM_001170629.2(CHD8):c.200T>A (p.Val67Asp)
NM_001170629.2(CHD8):c.228A>G (p.Thr76=)
NM_001170629.2(CHD8):c.2330G>A (p.Arg777Gln)
NM_001170629.2(CHD8):c.236C>G (p.Ser79Cys)
NM_001170629.2(CHD8):c.2432T>C (p.Leu811Pro)
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2455G>A (p.Val819Ile)
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.2730+1G>C
NM_001170629.2(CHD8):c.2748C>T (p.Gly916=)
NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs) rs797044853
NM_001170629.2(CHD8):c.28G>T (p.Asp10Tyr) rs767231058
NM_001170629.2(CHD8):c.2979_2981del (p.Phe993del) rs1555315345
NM_001170629.2(CHD8):c.3021G>C (p.Lys1007Asn)
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.3305A>G (p.Asn1102Ser) rs369247427
NM_001170629.2(CHD8):c.3308-1G>A rs1888129073
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs) rs1157888951
NM_001170629.2(CHD8):c.3356T>C (p.Ile1119Thr)
NM_001170629.2(CHD8):c.3370C>A (p.His1124Asn)
NM_001170629.2(CHD8):c.3393A>C (p.Ser1131=) rs1566423758
NM_001170629.2(CHD8):c.3503A>G (p.Tyr1168Cys)
NM_001170629.2(CHD8):c.3580C>T (p.Arg1194Cys)
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter) rs1555314895
NM_001170629.2(CHD8):c.371A>G (p.Lys124Arg)
NM_001170629.2(CHD8):c.372G>C (p.Lys124Asn)
NM_001170629.2(CHD8):c.3789C>T (p.Tyr1263=)
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.3888A>G (p.Gln1296=)
NM_001170629.2(CHD8):c.410G>T (p.Gly137Val)
NM_001170629.2(CHD8):c.4217G>A (p.Arg1406His) rs770193381
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln)
NM_001170629.2(CHD8):c.4292G>A (p.Arg1431His)
NM_001170629.2(CHD8):c.4297C>T (p.Arg1433Cys)
NM_001170629.2(CHD8):c.4298G>A (p.Arg1433His)
NM_001170629.2(CHD8):c.4344G>A (p.Arg1448=) rs1566420954
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
NM_001170629.2(CHD8):c.4385G>A (p.Arg1462Gln)
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs) rs1555318633
NM_001170629.2(CHD8):c.4788A>G (p.Ala1596=)
NM_001170629.2(CHD8):c.4807G>A (p.Ala1603Thr)
NM_001170629.2(CHD8):c.4808C>T (p.Ala1603Val)
NM_001170629.2(CHD8):c.4840G>A (p.Val1614Ile)
NM_001170629.2(CHD8):c.4843G>C (p.Val1615Leu)
NM_001170629.2(CHD8):c.4921+4C>T
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.4985G>A (p.Arg1662Gln)
NM_001170629.2(CHD8):c.5045T>G (p.Val1682Gly)
NM_001170629.2(CHD8):c.5175A>T (p.Gly1725=) rs1428138381
NM_001170629.2(CHD8):c.5348C>T (p.Ala1783Val)
NM_001170629.2(CHD8):c.536A>G (p.Gln179Arg)
NM_001170629.2(CHD8):c.5374C>T (p.Arg1792Trp)
NM_001170629.2(CHD8):c.5390+5A>G
NM_001170629.2(CHD8):c.5489G>A (p.Arg1830His)
NM_001170629.2(CHD8):c.5576G>A (p.Arg1859His)
NM_001170629.2(CHD8):c.5600-4G>A
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.5622C>A (p.Phe1874Leu)
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5684G>A (p.Arg1895His)
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.5782C>T (p.Arg1928Trp)
NM_001170629.2(CHD8):c.5818C>T (p.His1940Tyr)
NM_001170629.2(CHD8):c.5876C>T (p.Ala1959Val)
NM_001170629.2(CHD8):c.5956C>G (p.His1986Asp)
NM_001170629.2(CHD8):c.5974C>T (p.Arg1992Cys)
NM_001170629.2(CHD8):c.5975G>A (p.Arg1992His)
NM_001170629.2(CHD8):c.6099G>A (p.Arg2033=)
NM_001170629.2(CHD8):c.6167G>A (p.Arg2056Gln)
NM_001170629.2(CHD8):c.6190G>A (p.Glu2064Lys) rs779756082
NM_001170629.2(CHD8):c.6220G>A (p.Asp2074Asn)
NM_001170629.2(CHD8):c.6222C>T (p.Asp2074=)
NM_001170629.2(CHD8):c.6318A>G (p.Leu2106=) rs1566412548
NM_001170629.2(CHD8):c.6398A>T (p.Glu2133Val)
NM_001170629.2(CHD8):c.6472C>T (p.Arg2158Cys)
NM_001170629.2(CHD8):c.649A>C (p.Ile217Leu) rs771079174
NM_001170629.2(CHD8):c.6575G>A (p.Gly2192Glu)
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter) rs1555313048
NM_001170629.2(CHD8):c.6670A>G (p.Met2224Val)
NM_001170629.2(CHD8):c.6722A>G (p.Lys2241Arg)
NM_001170629.2(CHD8):c.6731G>A (p.Arg2244Gln)
NM_001170629.2(CHD8):c.680A>G (p.Lys227Arg)
NM_001170629.2(CHD8):c.70A>G (p.Ser24Gly)
NM_001170629.2(CHD8):c.710G>A (p.Arg237His)
NM_001170629.2(CHD8):c.7110A>T (p.Lys2370Asn)
NM_001170629.2(CHD8):c.7113TAA[1] (p.Asn2372del) rs1395958904
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.7199C>T (p.Thr2400Met)
NM_001170629.2(CHD8):c.7200G>A (p.Thr2400=)
NM_001170629.2(CHD8):c.7210C>G (p.Arg2404Gly)
NM_001170629.2(CHD8):c.7230T>A (p.Ile2410=)
NM_001170629.2(CHD8):c.7255G>A (p.Ala2419Thr)
NM_001170629.2(CHD8):c.7259G>A (p.Arg2420His)
NM_001170629.2(CHD8):c.731C>T (p.Pro244Leu)
NM_001170629.2(CHD8):c.7337C>T (p.Thr2446Met)
NM_001170629.2(CHD8):c.7436G>A (p.Gly2479Asp)
NM_001170629.2(CHD8):c.7445C>T (p.Ser2482Leu)
NM_001170629.2(CHD8):c.7497C>T (p.Pro2499=)
NM_001170629.2(CHD8):c.7506CCATCACCA[3] (p.His2508_Pro2509insHisHisHis)
NM_001170629.2(CHD8):c.7588C>G (p.Arg2530Gly)
NM_001170629.2(CHD8):c.7621G>A (p.Asp2541Asn)
NM_001170629.2(CHD8):c.7733A>G (p.Asp2578Gly)
NM_001170629.2(CHD8):c.844-3T>C
NM_001170629.2(CHD8):c.844-8_844-4del
NM_001170629.2(CHD8):c.881C>A (p.Pro294Gln)
NM_001170629.2(CHD8):c.90_92dup (p.Gln30_Asp31insGlu)
NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg) rs1566444686

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