ClinVar Miner

List of variants in gene CHD8 reported as likely pathogenic

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) rs200566427 0.00019
GRCh37/hg19 14q11.2(chr14:21887312-21918282)
NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter) rs746163664
NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)
NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)
NM_001170629.2(CHD8):c.1601+5G>A rs2139531134
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.1720del (p.Arg574fs) rs2139499999
NM_001170629.2(CHD8):c.1732C>T (p.Arg578Cys) rs1888700304
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)
NM_001170629.2(CHD8):c.1899+2T>G
NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala) rs2139499311
NM_001170629.2(CHD8):c.1951C>T (p.Arg651Trp) rs1329659775
NM_001170629.2(CHD8):c.2062del (p.Gln687_Leu688insTer)
NM_001170629.2(CHD8):c.2227-1G>C
NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter) rs776631057
NM_001170629.2(CHD8):c.2364+1G>C rs2139484699
NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) rs1057518651
NM_001170629.2(CHD8):c.2435G>A (p.Arg812Gln)
NM_001170629.2(CHD8):c.2486+1G>A rs1888355872
NM_001170629.2(CHD8):c.2486+1G>T
NM_001170629.2(CHD8):c.2487-1G>C rs2139481823
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.2730+1G>C
NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter) rs1555315488
NM_001170629.2(CHD8):c.2866_2868delinsAGTA (p.Arg956fs) rs1594349020
NM_001170629.2(CHD8):c.2867G>A (p.Arg956His) rs2139478439
NM_001170629.2(CHD8):c.3274C>T (p.Arg1092Cys) rs1439223724
NM_001170629.2(CHD8):c.3291C>A (p.His1097Gln) rs1555315221
NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)
NM_001170629.2(CHD8):c.3308-1G>A rs1888129073
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val) rs1064795655
NM_001170629.2(CHD8):c.3338del (p.Arg1113fs) rs1594344768
NM_001170629.2(CHD8):c.3519-2A>G rs1594344233
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.3725G>T (p.Arg1242Leu)
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.3964G>C (p.Gly1322Arg) rs1057523712
NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
NM_001170629.2(CHD8):c.4204C>T (p.Arg1402Ter) rs1334692966
NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)
NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs) rs1887974151
NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer) rs1555314317
NM_001170629.2(CHD8):c.4727+1del rs1594340060
NM_001170629.2(CHD8):c.4738C>T (p.Arg1580Trp)
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4817+2T>A rs1555314174
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)
NM_001170629.2(CHD8):c.5127+1G>A rs794727436
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs) rs1594331875
NM_001170629.2(CHD8):c.5599+2T>G
NM_001170629.2(CHD8):c.5617del (p.Leu1873fs)
NM_001170629.2(CHD8):c.5736del (p.Leu1912fs)
NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) rs1131691627
NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)
NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) rs1555313219
NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer) rs1594329885
NM_001170629.2(CHD8):c.6467A>G (p.Lys2156Arg)
NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) rs752374375
NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs) rs751094013
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001170629.2(CHD8):c.844-1G>C
Single allele

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