ClinVar Miner

List of variants in gene CHD8 reported as pathogenic for intellectual developmental disorder with autism and macrocephaly

Included ClinVar conditions (1):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) rs1454466097 0.00001
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.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter) rs1331026006
NM_001170629.2(CHD8):c.2025-1G>C
NM_001170629.2(CHD8):c.2065G>T (p.Glu689Ter) rs1555316331
NM_001170629.2(CHD8):c.2199_2200del (p.His734fs)
NM_001170629.2(CHD8):c.2240dup (p.Tyr747Ter) rs2139484859
NM_001170629.2(CHD8):c.2565del (p.Asn855fs) rs1566427770
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.3308-1G>C rs1888129073
NM_001170629.2(CHD8):c.3308-2A>G rs2139470242
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.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.3790_3796del (p.Glu1264fs) rs2139467241
NM_001170629.2(CHD8):c.3996_3997del (p.Gln1332fs)
NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) rs397514552
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp) rs2139462537
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
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.4984C>T (p.Arg1662Ter) rs1555313934
NM_001170629.2(CHD8):c.5422C>T (p.Arg1808Ter)
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter) rs55884219
NM_001170629.2(CHD8):c.5646_5647del (p.Arg1882fs) rs2139448045
NM_001170629.2(CHD8):c.5744del (p.Pro1915fs) rs2139447795
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs) rs2139447345
NM_001170629.2(CHD8):c.6307_6310del (p.Glu2103fs) rs1887639311
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.6518C>A (p.Ser2173Ter) rs781575717
NM_001170629.2(CHD8):c.6527G>A (p.Trp2176Ter)
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) rs1555313027
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del) rs774490485
NM_001170629.2(CHD8):c.949C>T (p.Gln317Ter)
NM_001170629.2(CHD8):c.991C>T (p.Gln331Ter)

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