ClinVar Miner

Variants in gene CHD8 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP gnomAD frequency
NM_001170629.2(CHD8):c.3307+86T>C rs116904182 0.01023
NM_001170629.2(CHD8):c.1437C>T (p.Asn479=) rs61744173 0.00897
NM_001170629.2(CHD8):c.2373G>A (p.Pro791=) rs61752838 0.00607
NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser) rs61744458 0.00579
NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val) rs200056646 0.00371
NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys) rs78640816 0.00245
NM_001170629.2(CHD8):c.2487-15A>G rs374458289 0.00104
NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe) rs192989929 0.00101
NM_001170629.2(CHD8):c.4921+7A>G rs375587003 0.00100
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg) rs201074234 0.00091
NM_001170629.2(CHD8):c.2362G>A (p.Val788Met) rs191366877 0.00088
NM_001170629.2(CHD8):c.7203G>A (p.Val2401=) rs181239271 0.00084
NM_001170629.2(CHD8):c.3882+6T>C rs373037739 0.00059
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.6119A>G (p.Asp2040Gly) rs148494847 0.00048
NM_001170629.2(CHD8):c.1717-4A>G rs191933523 0.00043
NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr) rs551653039 0.00041
NM_001170629.2(CHD8):c.3714+4A>G rs191258109 0.00039
NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=) rs61752836 0.00037
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.7431G>A (p.Met2477Ile) rs375405457 0.00024
NM_001170629.2(CHD8):c.1601+29C>T rs375282372 0.00022
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.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=) rs200180762 0.00002
NM_001170629.2(CHD8):c.852G>A (p.Ser284=) rs765203840 0.00002
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.2487-28_2487-27dup rs111776414
NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro) rs745917082

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