ClinVar Miner

List of variants in gene CHD8 reported as likely pathogenic for autism, susceptiblity to

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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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.1100dup (p.Pro368fs)
NM_001170629.2(CHD8):c.1601+5G>A rs2139531134
NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) rs863224857
NM_001170629.2(CHD8):c.1752dup (p.Tyr585fs)
NM_001170629.2(CHD8):c.1931T>C (p.Val644Ala) rs2139499311
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.3299T>C (p.Leu1100Pro)
NM_001170629.2(CHD8):c.3524_3525insC (p.Leu1175fs)
NM_001170629.2(CHD8):c.3725G>A (p.Arg1242Gln) rs2139467378
NM_001170629.2(CHD8):c.3832dup (p.Asp1278fs)
NM_001170629.2(CHD8):c.3882+1G>A rs1555314736
NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)
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.4744C>T (p.Arg1582Ter) rs1555314211
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)
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.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.7094G>A (p.Trp2365Ter) rs752374375

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