ClinVar Miner

List of variants in gene CHD8 studied for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=) rs61736703 0.00383
NM_001170629.2(CHD8):c.2907+12A>T rs200189975 0.00186
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
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.6340C>T (p.Leu2114Phe) rs200566427 0.00019
NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu) rs374435577 0.00009
NM_001170629.2(CHD8):c.6131G>A (p.Arg2044Gln) rs370062980 0.00003
NM_001170629.2(CHD8):c.2650A>G (p.Met884Val) rs373072733 0.00002
NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu) rs1889555015 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
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.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) rs767023297 0.00001
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001170629.2(CHD8):c.5372G>A (p.Arg1791Gln) rs370298280 0.00001
NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln) rs771587494 0.00001
NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His) rs1887513652 0.00001
NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) rs967570036 0.00001
GRCh37/hg19 14q11.2(chr14:21887312-21918282)
NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) rs753886912
NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)
NM_001170629.2(CHD8):c.117_133del (p.Pro40fs) rs1566446604
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
NM_001170629.2(CHD8):c.158del (p.Gly53fs)
NM_001170629.2(CHD8):c.1601+5G>A rs2139531134
NM_001170629.2(CHD8):c.161G>T (p.Gly54Val) rs1057519411
NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)
NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)
NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter) rs1331026006
NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) rs1888694098
NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)
NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala) rs2139499311
NM_001170629.2(CHD8):c.2025-1G>C
NM_001170629.2(CHD8):c.2062del (p.Gln687_Leu688insTer)
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2070G>A (p.Lys690=)
NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.2226+3G>T rs2139492445
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter) rs2139484859
NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)
NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter) rs776631057
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)
NM_001170629.2(CHD8):c.2509G>A (p.Glu837Lys)
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr) rs1013103711
NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)
NM_001170629.2(CHD8):c.2993A>G (p.Gln998Arg) rs765569494
NM_001170629.2(CHD8):c.3005A>T (p.Glu1002Val)
NM_001170629.2(CHD8):c.3052-11A>G rs1888218188
NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
NM_001170629.2(CHD8):c.3308-1G>C rs1888129073
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)
NM_001170629.2(CHD8):c.3479G>A (p.Arg1160His)
NM_001170629.2(CHD8):c.347del (p.Thr116fs) rs1135401763
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn) rs2139469836
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3533G>A (p.Arg1178His) rs1888107694
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) rs1555314788
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.3766C>T (p.Arg1256Cys)
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.3996_3997del (p.Gln1332fs)
NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4028T>C (p.Ile1343Thr)
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) rs752288417
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)
NM_001170629.2(CHD8):c.4285C>T (p.Arg1429Trp)
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs) rs1887974151
NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) rs192277407
NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer) rs1555314317
NM_001170629.2(CHD8):c.4727+1del rs1594340060
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp) rs1057519410
NM_001170629.2(CHD8):c.4818-1G>A rs2139460816
NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter) rs1555314122
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001170629.2(CHD8):c.4973A>G (p.Glu1658Gly)
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)
NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5422C>T (p.Arg1808Ter)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs) rs1594331875
NM_001170629.2(CHD8):c.5621T>C (p.Phe1874Ser)
NM_001170629.2(CHD8):c.5629C>T (p.Pro1877Ser)
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001170629.2(CHD8):c.5653C>T (p.Arg1885Trp)
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) rs1887663294
NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)
NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)
NM_001170629.2(CHD8):c.5924C>T (p.Pro1975Leu)
NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.6060G>C (p.Glu2020Asp)
NM_001170629.2(CHD8):c.6077T>C (p.Leu2026Pro)
NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) rs1131691627
NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)
NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) rs1555313219
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs) rs1887639311
NM_001170629.2(CHD8):c.6310G>A (p.Glu2104Lys)
NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer) rs1594329885
NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) rs556977377
NM_001170629.2(CHD8):c.6355_6356del (p.Leu2120fs) rs1887627866
NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)
NM_001170629.2(CHD8):c.6447_6450del (p.Arg2150fs)
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) rs781575717
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001170629.2(CHD8):c.68A>C (p.Asp23Ala)
NM_001170629.2(CHD8):c.7066-4_7066-3delinsAA
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) rs752374375
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.7177A>G (p.Lys2393Glu)
NM_001170629.2(CHD8):c.7182+1G>A
NM_001170629.2(CHD8):c.7182+1dup
NM_001170629.2(CHD8):c.7267C>T (p.Arg2423Ter)
NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)
NM_001170629.2(CHD8):c.7474C>T (p.Leu2492Phe)
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del) rs774490485
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)
NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)
NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)
NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
NM_001170629.2(CHD8):c.991C>T (p.Gln331Ter)

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