ClinVar Miner

List of variants in gene CHD8 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 468
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
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.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
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.5665C>T (p.Arg1889Cys) rs201802014 0.00016
NM_001170629.2(CHD8):c.7496C>A (p.Pro2499His) rs1212151127 0.00013
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His) rs373607095 0.00008
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
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.4343G>A (p.Arg1448Gln) rs915195873 0.00004
NM_001170629.2(CHD8):c.4484G>A (p.Arg1495His) rs376523446 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.254C>T (p.Pro85Leu) rs886043611 0.00003
NM_001170629.2(CHD8):c.4727+3A>G rs762971007 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.622G>A (p.Gly208Ser) rs377359922 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.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=) rs898418482 0.00002
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.181T>C (p.Ser61Pro) rs1064795811 0.00002
NM_001170629.2(CHD8):c.256G>A (p.Ala86Thr) rs1055413765 0.00002
NM_001170629.2(CHD8):c.400C>T (p.Pro134Ser) rs763843295 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.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001170629.2(CHD8):c.6166C>T (p.Arg2056Trp) rs769828519 0.00002
NM_001170629.2(CHD8):c.676G>A (p.Ala226Thr) rs750335653 0.00002
NM_001170629.2(CHD8):c.-1G>A rs375043337 0.00001
NM_001170629.2(CHD8):c.-3A>G rs1331518100 0.00001
NM_001170629.2(CHD8):c.1057A>T (p.Ile353Phe) rs759245173 0.00001
NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu) rs746163664 0.00001
NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly) rs1435998081 0.00001
NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln) rs755646683 0.00001
NM_001170629.2(CHD8):c.1899+5G>A rs1555316496 0.00001
NM_001170629.2(CHD8):c.21T>G (p.Asp7Glu) rs769940681 0.00001
NM_001170629.2(CHD8):c.2364+2T>C rs748109741 0.00001
NM_001170629.2(CHD8):c.2383G>A (p.Ala795Thr) rs1363064989 0.00001
NM_001170629.2(CHD8):c.3338G>A (p.Arg1113His) rs182713755 0.00001
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.4802G>C (p.Gly1601Ala) rs1392208482 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001170629.2(CHD8):c.493C>T (p.Pro165Ser) rs1011766590 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001170629.2(CHD8):c.5222C>T (p.Pro1741Leu) rs749428842 0.00001
NM_001170629.2(CHD8):c.5224G>T (p.Gly1742Cys) rs1405068764 0.00001
NM_001170629.2(CHD8):c.5324G>A (p.Arg1775Gln) rs757486587 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.5434A>G (p.Thr1812Ala) rs755228158 0.00001
NM_001170629.2(CHD8):c.545G>A (p.Gly182Asp) rs752375264 0.00001
NM_001170629.2(CHD8):c.5518G>A (p.Asp1840Asn) rs1031408052 0.00001
NM_001170629.2(CHD8):c.5819A>G (p.His1940Arg) rs758143375 0.00001
NM_001170629.2(CHD8):c.5878G>A (p.Ala1960Thr) rs1029580412 0.00001
NM_001170629.2(CHD8):c.6035C>T (p.Thr2012Ile) rs778530750 0.00001
NM_001170629.2(CHD8):c.605T>C (p.Phe202Ser) rs1384889551 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.6392C>T (p.Pro2131Leu) rs794727559 0.00001
NM_001170629.2(CHD8):c.6619G>A (p.Glu2207Lys) rs1291902630 0.00001
NM_001170629.2(CHD8):c.6635C>T (p.Pro2212Leu) rs1276002313 0.00001
NM_001170629.2(CHD8):c.7182+4A>T rs1383610756 0.00001
NM_001170629.2(CHD8):c.7258C>T (p.Arg2420Cys) rs371294659 0.00001
NM_001170629.2(CHD8):c.7267C>G (p.Arg2423Gly) rs1555312075 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
NM_001170629.2(CHD8):c.-179T>A
NM_001170629.2(CHD8):c.-6C>A rs2139540982
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1056G>A (p.Gln352=)
NM_001170629.2(CHD8):c.1080_1085dup (p.362PQ[3]) rs2139534520
NM_001170629.2(CHD8):c.1090C>T (p.Pro364Ser)
NM_001170629.2(CHD8):c.1102C>G (p.Pro368Ala) rs2139534434
NM_001170629.2(CHD8):c.1157C>A (p.Pro386Gln) rs966883163
NM_001170629.2(CHD8):c.1162C>A (p.Gln388Lys)
NM_001170629.2(CHD8):c.1166G>A (p.Ser389Asn)
NM_001170629.2(CHD8):c.1183T>C (p.Ser395Pro)
NM_001170629.2(CHD8):c.1186G>C (p.Val396Leu)
NM_001170629.2(CHD8):c.1195A>C (p.Lys399Gln) rs1064795674
NM_001170629.2(CHD8):c.1215+4A>G
NM_001170629.2(CHD8):c.1219G>A (p.Gly407Ser)
NM_001170629.2(CHD8):c.1231G>C (p.Gly411Arg)
NM_001170629.2(CHD8):c.1261G>A (p.Val421Ile)
NM_001170629.2(CHD8):c.1275T>G (p.Ser425Arg) rs2139532120
NM_001170629.2(CHD8):c.1293A>C (p.Ser431=) rs886042608
NM_001170629.2(CHD8):c.1301C>G (p.Ala434Gly)
NM_001170629.2(CHD8):c.1319C>T (p.Ser440Leu)
NM_001170629.2(CHD8):c.1338G>T (p.Met446Ile)
NM_001170629.2(CHD8):c.133_134delinsAG (p.Ser45=)
NM_001170629.2(CHD8):c.1387C>T (p.Arg463Trp)
NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)
NM_001170629.2(CHD8):c.1542G>C (p.Glu514Asp) rs1423867231
NM_001170629.2(CHD8):c.1550A>C (p.Lys517Thr)
NM_001170629.2(CHD8):c.1559A>G (p.Lys520Arg) rs1064794510
NM_001170629.2(CHD8):c.1567G>A (p.Gly523Ser)
NM_001170629.2(CHD8):c.1573T>G (p.Ser525Ala)
NM_001170629.2(CHD8):c.1594A>C (p.Lys532Gln) rs1555317983
NM_001170629.2(CHD8):c.1599_1601+6delinsGAAGTGAGG
NM_001170629.2(CHD8):c.15C>G (p.Ile5Met) rs1889567529
NM_001170629.2(CHD8):c.1612C>A (p.Pro538Thr) rs1456299794
NM_001170629.2(CHD8):c.1616T>C (p.Val539Ala)
NM_001170629.2(CHD8):c.1636C>T (p.Arg546Cys)
NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) rs1888700304
NM_001170629.2(CHD8):c.175G>T (p.Gly59Trp)
NM_001170629.2(CHD8):c.1776G>C (p.Lys592Asn)
NM_001170629.2(CHD8):c.1788T>A (p.Asp596Glu) rs2139499884
NM_001170629.2(CHD8):c.1802A>T (p.Glu601Val) rs1888697677
NM_001170629.2(CHD8):c.1820C>T (p.Pro607Leu)
NM_001170629.2(CHD8):c.1835C>G (p.Pro612Arg)
NM_001170629.2(CHD8):c.1885A>T (p.Met629Leu)
NM_001170629.2(CHD8):c.1969C>T (p.Leu657Phe)
NM_001170629.2(CHD8):c.2024+4C>T
NM_001170629.2(CHD8):c.202C>T (p.Pro68Ser)
NM_001170629.2(CHD8):c.2053A>C (p.Ile685Leu)
NM_001170629.2(CHD8):c.2080A>G (p.Ile694Val)
NM_001170629.2(CHD8):c.208C>T (p.Pro70Ser)
NM_001170629.2(CHD8):c.2099G>A (p.Arg700His) rs1085307545
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
NM_001170629.2(CHD8):c.2133C>A (p.Phe711Leu)
NM_001170629.2(CHD8):c.2171T>G (p.Val724Gly)
NM_001170629.2(CHD8):c.2200C>G (p.His734Asp) rs1064795709
NM_001170629.2(CHD8):c.2218A>G (p.Asn740Asp) rs2139492486
NM_001170629.2(CHD8):c.2219A>T (p.Asn740Ile) rs761808046
NM_001170629.2(CHD8):c.2226+5G>A rs2139492436
NM_001170629.2(CHD8):c.2304T>G (p.Asp768Glu)
NM_001170629.2(CHD8):c.2309G>A (p.Gly770Asp)
NM_001170629.2(CHD8):c.2327A>G (p.Lys776Arg) rs2139484745
NM_001170629.2(CHD8):c.2330G>A (p.Arg777Gln)
NM_001170629.2(CHD8):c.2366A>G (p.Asn789Ser)
NM_001170629.2(CHD8):c.2368C>T (p.Arg790Cys) rs776528619
NM_001170629.2(CHD8):c.2369G>A (p.Arg790His)
NM_001170629.2(CHD8):c.236C>G (p.Ser79Cys)
NM_001170629.2(CHD8):c.238A>G (p.Lys80Glu)
NM_001170629.2(CHD8):c.2390A>G (p.Lys797Arg)
NM_001170629.2(CHD8):c.2401C>G (p.Leu801Val)
NM_001170629.2(CHD8):c.242A>C (p.Glu81Ala)
NM_001170629.2(CHD8):c.2476T>A (p.Trp826Arg) rs2139482304
NM_001170629.2(CHD8):c.2480A>T (p.Tyr827Phe)
NM_001170629.2(CHD8):c.2484C>T (p.Asn828=)
NM_001170629.2(CHD8):c.2487-6C>A
NM_001170629.2(CHD8):c.2614A>G (p.Thr872Ala)
NM_001170629.2(CHD8):c.2627G>A (p.Arg876Gln)
NM_001170629.2(CHD8):c.2641T>C (p.Trp881Arg)
NM_001170629.2(CHD8):c.2652G>A (p.Met884Ile)
NM_001170629.2(CHD8):c.2662G>T (p.Val888Leu)
NM_001170629.2(CHD8):c.2684G>A (p.Ser895Asn)
NM_001170629.2(CHD8):c.2687G>A (p.Arg896Lys)
NM_001170629.2(CHD8):c.2690A>T (p.Gln897Leu)
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.2729G>A (p.Arg910Gln)
NM_001170629.2(CHD8):c.2731-24_2731-7delinsCTAAGCATGAAG
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.2812C>T (p.Arg938Cys)
NM_001170629.2(CHD8):c.2813G>A (p.Arg938His)
NM_001170629.2(CHD8):c.2836A>G (p.Ile946Val)
NM_001170629.2(CHD8):c.2849C>G (p.Ala950Gly)
NM_001170629.2(CHD8):c.2855G>A (p.Arg952Gln) rs2139478468
NM_001170629.2(CHD8):c.2885A>T (p.Asp962Val) rs2139478403
NM_001170629.2(CHD8):c.289A>G (p.Thr97Ala)
NM_001170629.2(CHD8):c.289A>T (p.Thr97Ser) rs1594379991
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
NM_001170629.2(CHD8):c.2908G>A (p.Glu970Lys) rs1555315362
NM_001170629.2(CHD8):c.290C>G (p.Thr97Ser)
NM_001170629.2(CHD8):c.2936C>T (p.Pro979Leu)
NM_001170629.2(CHD8):c.295C>T (p.Pro99Ser)
NM_001170629.2(CHD8):c.2966G>A (p.Ser989Asn)
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg) rs765569494
NM_001170629.2(CHD8):c.3020A>G (p.Lys1007Arg)
NM_001170629.2(CHD8):c.3028G>A (p.Gly1010Arg)
NM_001170629.2(CHD8):c.302G>A (p.Ser101Asn)
NM_001170629.2(CHD8):c.302G>T (p.Ser101Ile)
NM_001170629.2(CHD8):c.307G>A (p.Glu103Lys)
NM_001170629.2(CHD8):c.3140C>T (p.Thr1047Ile)
NM_001170629.2(CHD8):c.3152T>G (p.Val1051Gly) rs794727141
NM_001170629.2(CHD8):c.3163A>G (p.Asn1055Asp) rs2139475087
NM_001170629.2(CHD8):c.3166A>G (p.Ile1056Val) rs2139475081
NM_001170629.2(CHD8):c.31G>A (p.Asp11Asn) rs2139540870
NM_001170629.2(CHD8):c.3205T>G (p.Phe1069Val) rs1284737987
NM_001170629.2(CHD8):c.320A>G (p.Gln107Arg) rs2139540187
NM_001170629.2(CHD8):c.3214C>T (p.Leu1072Phe)
NM_001170629.2(CHD8):c.3226G>T (p.Ala1076Ser)
NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)
NM_001170629.2(CHD8):c.322C>G (p.Pro108Ala)
NM_001170629.2(CHD8):c.325G>A (p.Val109Ile)
NM_001170629.2(CHD8):c.3287A>G (p.Asn1096Ser)
NM_001170629.2(CHD8):c.3307+6G>A
NM_001170629.2(CHD8):c.3325C>G (p.Leu1109Val)
NM_001170629.2(CHD8):c.3340G>C (p.Glu1114Gln) rs1555314993
NM_001170629.2(CHD8):c.3347G>T (p.Cys1116Phe)
NM_001170629.2(CHD8):c.3354T>A (p.Ile1118=)
NM_001170629.2(CHD8):c.3362A>G (p.His1121Arg)
NM_001170629.2(CHD8):c.3371A>T (p.His1124Leu) rs1566423820
NM_001170629.2(CHD8):c.338C>G (p.Ser113Trp)
NM_001170629.2(CHD8):c.3413T>C (p.Ile1138Thr)
NM_001170629.2(CHD8):c.3474G>A (p.Met1158Ile)
NM_001170629.2(CHD8):c.349T>C (p.Ser117Pro)
NM_001170629.2(CHD8):c.3514A>G (p.Arg1172Gly)
NM_001170629.2(CHD8):c.3518+5G>A
NM_001170629.2(CHD8):c.3518G>A (p.Arg1173Lys)
NM_001170629.2(CHD8):c.3533G>A (p.Arg1178His) rs1888107694
NM_001170629.2(CHD8):c.3535A>C (p.Ile1179Leu)
NM_001170629.2(CHD8):c.3587G>C (p.Ser1196Thr)
NM_001170629.2(CHD8):c.3592C>A (p.Pro1198Thr)
NM_001170629.2(CHD8):c.3604C>A (p.Arg1202Ser)
NM_001170629.2(CHD8):c.3628C>T (p.Arg1210Trp) rs757278444
NM_001170629.2(CHD8):c.3629G>A (p.Arg1210Gln) rs2139468962
NM_001170629.2(CHD8):c.3646A>G (p.Ile1216Val)
NM_001170629.2(CHD8):c.3683A>G (p.Asp1228Gly)
NM_001170629.2(CHD8):c.371A>G (p.Lys124Arg)
NM_001170629.2(CHD8):c.3762G>A (p.Val1254=)
NM_001170629.2(CHD8):c.3772A>C (p.Ile1258Leu) rs1888076992
NM_001170629.2(CHD8):c.3778C>T (p.Arg1260Cys)
NM_001170629.2(CHD8):c.3779G>A (p.Arg1260His)
NM_001170629.2(CHD8):c.3785C>G (p.Ser1262Cys) rs2139467272
NM_001170629.2(CHD8):c.382A>G (p.Ile128Val)
NM_001170629.2(CHD8):c.3872A>G (p.Asn1291Ser)
NM_001170629.2(CHD8):c.3874A>G (p.Ile1292Val)
NM_001170629.2(CHD8):c.3902A>G (p.Lys1301Arg)
NM_001170629.2(CHD8):c.3940G>A (p.Ala1314Thr)
NM_001170629.2(CHD8):c.3965G>C (p.Gly1322Ala)
NM_001170629.2(CHD8):c.3971A>C (p.Lys1324Thr)
NM_001170629.2(CHD8):c.3G>A (p.Met1Ile)
NM_001170629.2(CHD8):c.4023_4028del (p.1340TI[1])
NM_001170629.2(CHD8):c.4073T>C (p.Val1358Ala) rs2139465215
NM_001170629.2(CHD8):c.408G>C (p.Met136Ile)
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.4112C>T (p.Pro1371Leu)
NM_001170629.2(CHD8):c.4162C>G (p.Leu1388Val)
NM_001170629.2(CHD8):c.416C>A (p.Ser139Tyr) rs1889549675
NM_001170629.2(CHD8):c.4217G>A (p.Arg1406His) rs770193381
NM_001170629.2(CHD8):c.4250T>C (p.Val1417Ala)
NM_001170629.2(CHD8):c.4286G>A (p.Arg1429Gln)
NM_001170629.2(CHD8):c.4297C>T (p.Arg1433Cys)
NM_001170629.2(CHD8):c.4312CAT[1] (p.His1439del)
NM_001170629.2(CHD8):c.4327C>T (p.Arg1443Cys)
NM_001170629.2(CHD8):c.4331C>T (p.Thr1444Ile) rs1064794449
NM_001170629.2(CHD8):c.4363G>A (p.Val1455Ile)
NM_001170629.2(CHD8):c.4379G>C (p.Arg1460Pro)
NM_001170629.2(CHD8):c.4417C>T (p.Arg1473Cys)
NM_001170629.2(CHD8):c.4424C>T (p.Thr1475Ile)
NM_001170629.2(CHD8):c.4451G>A (p.Arg1484Gln) rs1555314383
NM_001170629.2(CHD8):c.4496A>C (p.Asn1499Thr)
NM_001170629.2(CHD8):c.4570+17_4570+18insTATCAACTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGC
NM_001170629.2(CHD8):c.4581C>T (p.Ile1527=) rs1566420316
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) rs192277407
NM_001170629.2(CHD8):c.4658G>A (p.Arg1553Gln)
NM_001170629.2(CHD8):c.466G>T (p.Ala156Ser)
NM_001170629.2(CHD8):c.4676C>G (p.Thr1559Ser)
NM_001170629.2(CHD8):c.4687G>A (p.Asp1563Asn)
NM_001170629.2(CHD8):c.4751T>C (p.Leu1584Pro)
NM_001170629.2(CHD8):c.4797G>A (p.Val1599=)
NM_001170629.2(CHD8):c.4808C>T (p.Ala1603Val)
NM_001170629.2(CHD8):c.4853T>C (p.Leu1618Pro)
NM_001170629.2(CHD8):c.4867A>G (p.Thr1623Ala)
NM_001170629.2(CHD8):c.4921+5G>T
NM_001170629.2(CHD8):c.4949C>T (p.Ala1650Val)
NM_001170629.2(CHD8):c.4973A>C (p.Glu1658Ala)
NM_001170629.2(CHD8):c.5008G>C (p.Ala1670Pro) rs2139457056
NM_001170629.2(CHD8):c.5036C>G (p.Ser1679Cys)
NM_001170629.2(CHD8):c.5051+4A>G rs2139456918
NM_001170629.2(CHD8):c.5053G>A (p.Val1685Ile)
NM_001170629.2(CHD8):c.506C>T (p.Ser169Leu) rs2139539729
NM_001170629.2(CHD8):c.5083G>A (p.Glu1695Lys)
NM_001170629.2(CHD8):c.5127G>C (p.Glu1709Asp)
NM_001170629.2(CHD8):c.5131_5133del (p.Asp1711del)
NM_001170629.2(CHD8):c.5140A>G (p.Met1714Val) rs989066537
NM_001170629.2(CHD8):c.5145G>A (p.Met1715Ile)
NM_001170629.2(CHD8):c.5147T>C (p.Met1716Thr)
NM_001170629.2(CHD8):c.5157G>T (p.Glu1719Asp)
NM_001170629.2(CHD8):c.5165T>G (p.Val1722Gly)
NM_001170629.2(CHD8):c.5176G>A (p.Asp1726Asn)
NM_001170629.2(CHD8):c.517G>A (p.Ala173Thr)
NM_001170629.2(CHD8):c.5187G>C (p.Gln1729His) rs1887719780
NM_001170629.2(CHD8):c.5213T>C (p.Phe1738Ser)
NM_001170629.2(CHD8):c.5248C>T (p.Arg1750Trp)
NM_001170629.2(CHD8):c.5249G>A (p.Arg1750Gln)
NM_001170629.2(CHD8):c.5251C>T (p.Arg1751Cys)
NM_001170629.2(CHD8):c.5252G>A (p.Arg1751His)
NM_001170629.2(CHD8):c.5271G>C (p.Gln1757His)
NM_001170629.2(CHD8):c.5272C>T (p.Arg1758Cys)
NM_001170629.2(CHD8):c.5294T>C (p.Met1765Thr)
NM_001170629.2(CHD8):c.5300T>C (p.Ile1767Thr) rs903333944
NM_001170629.2(CHD8):c.5312A>T (p.Glu1771Val)
NM_001170629.2(CHD8):c.5314C>T (p.Arg1772Cys) rs1286064384
NM_001170629.2(CHD8):c.5315G>A (p.Arg1772His)
NM_001170629.2(CHD8):c.5327G>A (p.Arg1776Gln) rs1887714118
NM_001170629.2(CHD8):c.5336G>A (p.Arg1779His)
NM_001170629.2(CHD8):c.5338T>C (p.Cys1780Arg)
NM_001170629.2(CHD8):c.5339G>C (p.Cys1780Ser)
NM_001170629.2(CHD8):c.5348C>G (p.Ala1783Gly) rs751773278
NM_001170629.2(CHD8):c.5348C>T (p.Ala1783Val)
NM_001170629.2(CHD8):c.5365A>G (p.Ile1789Val) rs1555313583
NM_001170629.2(CHD8):c.5366T>C (p.Ile1789Thr) rs1887711941
NM_001170629.2(CHD8):c.5372G>T (p.Arg1791Leu)
NM_001170629.2(CHD8):c.5375G>A (p.Arg1792Gln)
NM_001170629.2(CHD8):c.5414A>G (p.Asp1805Gly) rs773818606
NM_001170629.2(CHD8):c.5435C>T (p.Thr1812Met)
NM_001170629.2(CHD8):c.5465T>C (p.Met1822Thr)
NM_001170629.2(CHD8):c.5472C>A (p.Phe1824Leu)
NM_001170629.2(CHD8):c.5489G>A (p.Arg1830His)
NM_001170629.2(CHD8):c.5491A>G (p.Thr1831Ala)
NM_001170629.2(CHD8):c.5496T>A (p.Phe1832Leu) rs1887680833
NM_001170629.2(CHD8):c.5501G>A (p.Arg1834Gln)
NM_001170629.2(CHD8):c.5503C>G (p.Leu1835Val) rs1161553064
NM_001170629.2(CHD8):c.5524A>G (p.Ser1842Gly)
NM_001170629.2(CHD8):c.5536T>C (p.Tyr1846His)
NM_001170629.2(CHD8):c.5552T>G (p.Val1851Gly)
NM_001170629.2(CHD8):c.5561G>A (p.Cys1854Tyr) rs2139448400
NM_001170629.2(CHD8):c.5563C>T (p.Arg1855Cys)
NM_001170629.2(CHD8):c.5581C>G (p.Pro1861Ala)
NM_001170629.2(CHD8):c.5588C>T (p.Ala1863Val)
NM_001170629.2(CHD8):c.5591C>T (p.Ala1864Val)
NM_001170629.2(CHD8):c.5603C>A (p.Pro1868His)
NM_001170629.2(CHD8):c.5622C>A (p.Phe1874Leu)
NM_001170629.2(CHD8):c.5654G>A (p.Arg1885Gln)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5659C>T (p.Leu1887Phe)
NM_001170629.2(CHD8):c.5666G>A (p.Arg1889His)
NM_001170629.2(CHD8):c.5666G>T (p.Arg1889Leu)
NM_001170629.2(CHD8):c.5684G>A (p.Arg1895His)
NM_001170629.2(CHD8):c.5690G>A (p.Arg1897Gln)
NM_001170629.2(CHD8):c.5711C>T (p.Pro1904Leu) rs750353323
NM_001170629.2(CHD8):c.5713C>T (p.Leu1905Phe)
NM_001170629.2(CHD8):c.5753C>T (p.Pro1918Leu)
NM_001170629.2(CHD8):c.5755G>C (p.Glu1919Gln)
NM_001170629.2(CHD8):c.5782C>T (p.Arg1928Trp)
NM_001170629.2(CHD8):c.5815C>T (p.Arg1939Cys)
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
NM_001170629.2(CHD8):c.5901C>A (p.Asn1967Lys)
NM_001170629.2(CHD8):c.5901C>G (p.Asn1967Lys)
NM_001170629.2(CHD8):c.5917C>G (p.Pro1973Ala)
NM_001170629.2(CHD8):c.5944A>G (p.Thr1982Ala)
NM_001170629.2(CHD8):c.5966A>G (p.Tyr1989Cys) rs1887653474
NM_001170629.2(CHD8):c.5975G>A (p.Arg1992His)
NM_001170629.2(CHD8):c.5998C>T (p.Arg2000Cys)
NM_001170629.2(CHD8):c.5999G>A (p.Arg2000His)
NM_001170629.2(CHD8):c.6002C>T (p.Pro2001Leu)
NM_001170629.2(CHD8):c.6008C>G (p.Ala2003Gly) rs886043373
NM_001170629.2(CHD8):c.6010C>T (p.Pro2004Ser)
NM_001170629.2(CHD8):c.6028G>A (p.Glu2010Lys)
NM_001170629.2(CHD8):c.6037G>A (p.Ala2013Thr)
NM_001170629.2(CHD8):c.6046G>A (p.Val2016Ile) rs1887649973
NM_001170629.2(CHD8):c.6062G>C (p.Ser2021Thr)
NM_001170629.2(CHD8):c.6104G>A (p.Arg2035Gln)
NM_001170629.2(CHD8):c.6106C>T (p.Pro2036Ser)
NM_001170629.2(CHD8):c.6107C>G (p.Pro2036Arg)
NM_001170629.2(CHD8):c.6149C>G (p.Thr2050Ser) rs2139447069
NM_001170629.2(CHD8):c.6160G>A (p.Val2054Ile)
NM_001170629.2(CHD8):c.6167G>C (p.Arg2056Pro)
NM_001170629.2(CHD8):c.6169A>C (p.Ser2057Arg)
NM_001170629.2(CHD8):c.6190G>A (p.Glu2064Lys) rs779756082
NM_001170629.2(CHD8):c.620C>G (p.Thr207Ser)
NM_001170629.2(CHD8):c.6240A>G (p.Pro2080=)
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6265TCCAGC[2] (p.Ser2093_Ser2094del) rs749933003
NM_001170629.2(CHD8):c.6311A>C (p.Glu2104Ala) rs2139446702
NM_001170629.2(CHD8):c.6319+4A>G
NM_001170629.2(CHD8):c.6353A>C (p.Glu2118Ala)
NM_001170629.2(CHD8):c.6358C>T (p.Leu2120Phe)
NM_001170629.2(CHD8):c.6404G>A (p.Gly2135Glu)
NM_001170629.2(CHD8):c.6412A>G (p.Met2138Val)
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001170629.2(CHD8):c.6463C>T (p.Pro2155Ser) rs2139445985
NM_001170629.2(CHD8):c.6466A>G (p.Lys2156Glu) rs1555313139
NM_001170629.2(CHD8):c.6468+4A>G
NM_001170629.2(CHD8):c.646_663dup (p.Asn221_Thr222insSerIleValSerGlyAsn)
NM_001170629.2(CHD8):c.6470A>G (p.Asp2157Gly)
NM_001170629.2(CHD8):c.6496C>A (p.Leu2166Ile)
NM_001170629.2(CHD8):c.6525G>T (p.Lys2175Asn)
NM_001170629.2(CHD8):c.6538C>T (p.Arg2180Cys)
NM_001170629.2(CHD8):c.6557T>C (p.Val2186Ala)
NM_001170629.2(CHD8):c.6560C>T (p.Thr2187Ile)
NM_001170629.2(CHD8):c.6563G>A (p.Gly2188Glu) rs2139444897
NM_001170629.2(CHD8):c.6565G>A (p.Gly2189Arg)
NM_001170629.2(CHD8):c.656C>G (p.Ser219Cys) rs2139539399
NM_001170629.2(CHD8):c.6586C>T (p.His2196Tyr)
NM_001170629.2(CHD8):c.6595G>A (p.Asp2199Asn) rs1887600303
NM_001170629.2(CHD8):c.6596A>G (p.Asp2199Gly)
NM_001170629.2(CHD8):c.661A>T (p.Asn221Tyr) rs2139539395
NM_001170629.2(CHD8):c.6625G>A (p.Gly2209Ser)
NM_001170629.2(CHD8):c.6640C>T (p.Pro2214Ser)
NM_001170629.2(CHD8):c.6647C>T (p.Pro2216Leu) rs1887597818
NM_001170629.2(CHD8):c.664A>G (p.Thr222Ala)
NM_001170629.2(CHD8):c.6658A>G (p.Ser2220Gly)
NM_001170629.2(CHD8):c.6719C>G (p.Thr2240Ser) rs2139444575
NM_001170629.2(CHD8):c.6722A>G (p.Lys2241Arg)
NM_001170629.2(CHD8):c.6727C>T (p.Arg2243Cys)
NM_001170629.2(CHD8):c.6728G>A (p.Arg2243His)
NM_001170629.2(CHD8):c.6731G>A (p.Arg2244Gln)
NM_001170629.2(CHD8):c.6733G>C (p.Gly2245Arg)
NM_001170629.2(CHD8):c.6742G>A (p.Glu2248Lys)
NM_001170629.2(CHD8):c.680A>G (p.Lys227Arg)
NM_001170629.2(CHD8):c.7078C>T (p.Arg2360Cys)
NM_001170629.2(CHD8):c.7088A>G (p.Gln2363Arg)
NM_001170629.2(CHD8):c.7113TAA[1] (p.Asn2372del) rs1395958904
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.7191C>A (p.His2397Gln)
NM_001170629.2(CHD8):c.7199C>T (p.Thr2400Met)
NM_001170629.2(CHD8):c.7213G>C (p.Val2405Leu)
NM_001170629.2(CHD8):c.721C>T (p.Pro241Ser) rs1249562130
NM_001170629.2(CHD8):c.7253G>T (p.Arg2418Leu)
NM_001170629.2(CHD8):c.7255G>A (p.Ala2419Thr)
NM_001170629.2(CHD8):c.726C>A (p.Ser242Arg)
NM_001170629.2(CHD8):c.7279T>C (p.Ser2427Pro)
NM_001170629.2(CHD8):c.7280C>T (p.Ser2427Phe) rs2139428600
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7291G>A (p.Ala2431Thr)
NM_001170629.2(CHD8):c.7324T>A (p.Ser2442Thr)
NM_001170629.2(CHD8):c.7337C>T (p.Thr2446Met)
NM_001170629.2(CHD8):c.7345C>T (p.His2449Tyr)
NM_001170629.2(CHD8):c.7352G>A (p.Ser2451Asn)
NM_001170629.2(CHD8):c.7357G>A (p.Gly2453Ser)
NM_001170629.2(CHD8):c.7357G>T (p.Gly2453Cys)
NM_001170629.2(CHD8):c.7405T>G (p.Ser2469Ala)
NM_001170629.2(CHD8):c.7406C>G (p.Ser2469Cys)
NM_001170629.2(CHD8):c.7411C>T (p.Pro2471Ser) rs2139428284
NM_001170629.2(CHD8):c.7426G>T (p.Val2476Leu)
NM_001170629.2(CHD8):c.7450C>G (p.Pro2484Ala) rs2139428218
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del) rs774490485
NM_001170629.2(CHD8):c.7484A>C (p.His2495Pro)
NM_001170629.2(CHD8):c.7496_7504del (p.Pro2499_Pro2501del) rs771302334
NM_001170629.2(CHD8):c.7499A>G (p.His2500Arg)
NM_001170629.2(CHD8):c.7506CCATCACCA[3] (p.His2508_Pro2509insHisHisHis)
NM_001170629.2(CHD8):c.7521C>G (p.His2507Gln)
NM_001170629.2(CHD8):c.7522C>T (p.His2508Tyr) rs1887199443
NM_001170629.2(CHD8):c.7524T>A (p.His2508Gln)
NM_001170629.2(CHD8):c.7549C>T (p.Pro2517Ser)
NM_001170629.2(CHD8):c.7559C>G (p.Pro2520Arg)
NM_001170629.2(CHD8):c.7576G>A (p.Gly2526Ser)
NM_001170629.2(CHD8):c.7583C>T (p.Thr2528Ile)
NM_001170629.2(CHD8):c.7589G>T (p.Arg2530Leu)
NM_001170629.2(CHD8):c.7600C>A (p.Leu2534Met)
NM_001170629.2(CHD8):c.7607C>T (p.Pro2536Leu) rs1064795453
NM_001170629.2(CHD8):c.7632AGA[1] (p.Glu2545del)
NM_001170629.2(CHD8):c.7650A>T (p.Leu2550Phe)
NM_001170629.2(CHD8):c.7661A>T (p.Tyr2554Phe)
NM_001170629.2(CHD8):c.7676G>A (p.Arg2559Lys)
NM_001170629.2(CHD8):c.7708C>A (p.Pro2570Thr)
NM_001170629.2(CHD8):c.7720G>A (p.Asp2574Asn) rs2139427520
NM_001170629.2(CHD8):c.7744dup (p.Ter2582LeuextTer?)
NM_001170629.2(CHD8):c.794C>G (p.Thr265Arg)
NM_001170629.2(CHD8):c.799C>T (p.Pro267Ser) rs2139539035
NM_001170629.2(CHD8):c.836C>T (p.Pro279Leu)
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
NM_001170629.2(CHD8):c.851C>T (p.Ser284Leu)
NM_001170629.2(CHD8):c.856C>T (p.Arg286Cys)
NM_001170629.2(CHD8):c.881C>A (p.Pro294Gln)
NM_001170629.2(CHD8):c.890G>T (p.Gly297Val)
NM_001170629.2(CHD8):c.895C>G (p.Pro299Ala)
NM_001170629.2(CHD8):c.913G>C (p.Val305Leu)
NM_001170629.2(CHD8):c.941T>C (p.Ile314Thr)
NM_001170629.2(CHD8):c.959A>G (p.Gln320Arg)
NM_001170629.2(CHD8):c.992A>G (p.Gln331Arg) rs1566444686
NM_020920.4(CHD8):c.5428TCCAGC[4] (p.Ser1814_Ser1815dup) rs749933003

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