ClinVar Miner

List of variants in gene CHD8 reported by Eurofins NTD LLC (GA)

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.27C>T (p.Phe9=) rs75191413 0.00436
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln) rs149307240 0.00125
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) rs188900504 0.00028
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.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.254C>T (p.Pro85Leu) rs886043611 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001170629.2(CHD8):c.6035C>T (p.Thr2012Ile) rs778530750 0.00001
NM_001170629.2(CHD8):c.621C>T (p.Thr207=) rs370423608 0.00001
NM_001170629.2(CHD8):c.6392C>T (p.Pro2131Leu) rs794727559 0.00001
NM_001170629.2(CHD8):c.1293A>C (p.Ser431=) rs886042608
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.3152T>G (p.Val1051Gly) rs794727141
NM_001170629.2(CHD8):c.4581C>T (p.Ile1527=) rs1566420316
NM_001170629.2(CHD8):c.5127+1G>A rs794727436
NM_001170629.2(CHD8):c.5266dup (p.Tyr1756fs) rs886043086
NM_001170629.2(CHD8):c.5659C>G (p.Leu1887Val) rs369825360
NM_001170629.2(CHD8):c.6008C>G (p.Ala2003Gly) rs886043373
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194

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