ClinVar Miner

List of variants in gene CHD8 reported as pathogenic

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
GRCh37/hg19 14q11.2(chr14:21869505-21919003)x1
NM_001170629.1(CHD8):c.5053delG
NM_001170629.2(CHD8):c.117_133del (p.Pro40fs) rs1566446604
NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)
NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter) rs1435998081
NM_001170629.2(CHD8):c.142C>T (p.Gln48Ter) rs1555318734
NM_001170629.2(CHD8):c.1444C>T (p.Arg482Ter) rs2139531559
NM_001170629.2(CHD8):c.1473_1477delinsAGGAA (p.Ser491_Val492delinsArgGly)
NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter) rs1555318013
NM_001170629.2(CHD8):c.1566del (p.Gly523fs) rs1555318001
NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter) rs1888700404
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.2025-1G>C
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2093T>G (p.Leu698Ter) rs1555316323
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.2245del (p.Leu748_Val749insTer) rs1594352987
NM_001170629.2(CHD8):c.2345del (p.His782fs) rs886039692
NM_001170629.2(CHD8):c.2487-2A>G rs1057524339
NM_001170629.2(CHD8):c.2532del (p.Gln845fs)
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.2582_2583delinsT (p.Pro861fs) rs1594351052
NM_001170629.2(CHD8):c.2626C>T (p.Arg876Ter) rs1555315679
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter) rs1888277745
NM_001170629.2(CHD8):c.2811del (p.Arg938fs) rs1888277300
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs) rs797044853
NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs) rs2139478486
NM_001170629.2(CHD8):c.2854C>T (p.Arg952Ter) rs1131691548
NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)
NM_001170629.2(CHD8):c.2992C>T (p.Gln998Ter) rs886041968
NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter) rs1888229658
NM_001170629.2(CHD8):c.3119del (p.Asn1040fs)
NM_001170629.2(CHD8):c.3308-1G>C rs1888129073
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs) rs1157888951
NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs) rs2139470170
NM_001170629.2(CHD8):c.336dup (p.Ser113fs) rs1555318675
NM_001170629.2(CHD8):c.347del (p.Thr116fs) rs1135401763
NM_001170629.2(CHD8):c.3502T>A (p.Tyr1168Asn) rs2139469836
NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) rs1888108124
NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter) rs1888108039
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)
NM_001170629.2(CHD8):c.3623del (p.Cys1208fs) rs1594344154
NM_001170629.2(CHD8):c.3638del (p.Gly1213fs) rs1888105256
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter) rs1555314895
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.3733C>T (p.Arg1245Ter) rs886041884
NM_001170629.2(CHD8):c.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4027_4028del (p.Thr1342_Ile1343insTer)
NM_001170629.2(CHD8):c.4115del (p.Asn1372fs) rs1888033166
NM_001170629.2(CHD8):c.4131G>A (p.Trp1377Ter) rs1555314582
NM_001170629.2(CHD8):c.4174-9_4174-1del rs886039725
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4210C>T (p.Gln1404Ter) rs1555314489
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter) rs991738444
NM_001170629.2(CHD8):c.4429C>T (p.Arg1477Ter) rs1555314390
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter) rs1555314378
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs) rs1555318633
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4785_4788del (p.Ala1596fs) rs1555314186
NM_001170629.2(CHD8):c.4800del (p.Gly1602fs) rs1887960167
NM_001170629.2(CHD8):c.4818-1G>A rs2139460816
NM_001170629.2(CHD8):c.4818-1G>C
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.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5061del (p.Phe1687fs) rs2139452398
NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)
NM_001170629.2(CHD8):c.5240_5243del (p.Ala1747fs)
NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs) rs886043086
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)
NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter) rs1887710442
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5547del (p.Phe1850fs)
NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs) rs774152851
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)
NM_001170629.2(CHD8):c.5947_5951dup (p.Leu1985fs) rs2139447449
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) rs1131691627
NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) rs556977377
NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) rs781575717
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter) rs1555313048
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
NM_001170629.2(CHD8):c.961del (p.Leu321fs)

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