ClinVar Miner

Variants in gene CHD8 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1053 100 0 43 32 3 1 71

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other
pathogenic 0 9 0 0 0 0 2 0
likely pathogenic 10 0 1 1 1 1 0 1
uncertain significance 0 0 0 29 9 0 0 0
likely benign 0 0 29 0 33 0 0 0
benign 0 0 9 33 0 0 0 0
risk factor 2 0 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
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.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.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.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.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.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.7431G>A (p.Met2477Ile) rs375405457 0.00024
NM_001170629.2(CHD8):c.1601+29C>T rs375282372 0.00022
NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His) rs199908540 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.5665C>T (p.Arg1889Cys) rs201802014 0.00016
NM_001170629.2(CHD8):c.5607C>T (p.Pro1869=) rs537080482 0.00009
NM_001170629.2(CHD8):c.5662T>C (p.Tyr1888His) rs373607095 0.00008
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001170629.2(CHD8):c.4418G>A (p.Arg1473His) rs779590262 0.00005
NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu) rs530700201 0.00004
NM_001170629.2(CHD8):c.5608G>A (p.Asp1870Asn) rs376095447 0.00004
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001170629.2(CHD8):c.5816G>A (p.Arg1939His) rs751815253 0.00003
NM_001170629.2(CHD8):c.667G>C (p.Val223Leu) rs369329090 0.00003
NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro) rs866434305 0.00003
NM_001170629.2(CHD8):c.1320G>A (p.Ser440=) rs898418482 0.00002
NM_001170629.2(CHD8):c.181T>C (p.Ser61Pro) rs1064795811 0.00002
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.1315C>T (p.His439Tyr) rs565918098 0.00001
NM_001170629.2(CHD8):c.5390+6A>G rs778452195 0.00001
NM_001170629.2(CHD8):c.7253G>A (p.Arg2418Gln) rs573063062 0.00001
NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)
NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001170629.2(CHD8):c.2487-28_2487-27dup rs111776414
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter) rs774906516
NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) rs397514551
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.4373G>A (p.Trp1458Ter)
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.5326C>T (p.Arg1776Ter) rs1085307794
NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del) rs150254629
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=) rs766944646
NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro) rs745917082
NM_001170629.2(CHD8):c.846T>C (p.Gly282=)
Single allele

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