ClinVar Miner

Variants in gene HERC1 with conflicting interpretations

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
1104 95 0 57 7 0 0 64

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
pathogenic 0 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 7 0
likely benign 0 0 7 0 54
benign 0 0 0 54 0

All variants with conflicting interpretations #

Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003922.4(HERC1):c.4293T>C (p.Leu1431=) rs61749474 0.02482
NM_003922.4(HERC1):c.5044C>G (p.Leu1682Val) rs74814914 0.02482
NM_003922.4(HERC1):c.10723T>C (p.Leu3575=) rs61738787 0.01401
NM_003922.4(HERC1):c.8469G>A (p.Gly2823=) rs35918222 0.01335
NM_003922.4(HERC1):c.2768A>G (p.Asn923Ser) rs35978932 0.01265
NM_003922.4(HERC1):c.3742+12A>G rs143278098 0.01234
NM_003922.4(HERC1):c.5839C>T (p.Leu1947=) rs35098067 0.01229
NM_003922.4(HERC1):c.5932G>T (p.Ala1978Ser) rs34484871 0.01169
NM_003922.4(HERC1):c.2457A>G (p.Ala819=) rs61745864 0.01163
NM_003922.4(HERC1):c.5952A>G (p.Leu1984=) rs74021320 0.01163
NM_003922.4(HERC1):c.11332-15T>C rs78341289 0.01147
NM_003922.4(HERC1):c.7815G>A (p.Leu2605=) rs145406028 0.01144
NM_003922.4(HERC1):c.13180A>G (p.Ile4394Val) rs2228516 0.01040
NM_003922.4(HERC1):c.14559C>T (p.Asn4853=) rs2228518 0.00990
NM_003922.4(HERC1):c.14401-20C>T rs147469276 0.00922
NM_003922.4(HERC1):c.570C>T (p.Asn190=) rs2228514 0.00777
NM_003922.4(HERC1):c.2521-20C>T rs78084910 0.00704
NM_003922.4(HERC1):c.3565T>C (p.Leu1189=) rs2228519 0.00646
NM_003922.4(HERC1):c.8088A>G (p.Thr2696=) rs76114496 0.00627
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His) rs143508709 0.00573
NM_003922.4(HERC1):c.13716C>T (p.Leu4572=) rs61751108 0.00553
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_003922.4(HERC1):c.10786C>T (p.Pro3596Ser) rs115732707 0.00551
NM_003922.4(HERC1):c.1101T>C (p.Ile367=) rs35163901 0.00550
NM_003922.4(HERC1):c.2694C>T (p.His898=) rs78998206 0.00533
NM_003922.4(HERC1):c.8446G>A (p.Ala2816Thr) rs35122568 0.00507
NM_003922.4(HERC1):c.4232G>T (p.Gly1411Val) rs36089909 0.00505
NM_003922.4(HERC1):c.6225+4C>T rs141414233 0.00475
NM_003922.4(HERC1):c.2869-5T>C rs61751109 0.00460
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
NM_003922.4(HERC1):c.11967+8A>C rs149825836 0.00292
NM_003922.4(HERC1):c.1128T>C (p.Val376=) rs61751110 0.00289
NM_003922.4(HERC1):c.9493G>T (p.Ala3165Ser) rs80032429 0.00223
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_003922.4(HERC1):c.4845T>C (p.Ser1615=) rs183519177 0.00213
NM_003922.4(HERC1):c.10547-7C>T rs192840076 0.00205
NM_003922.4(HERC1):c.2580G>A (p.Arg860=) rs192526843 0.00180
NM_003922.4(HERC1):c.7803T>C (p.Val2601=) rs147694097 0.00178
NM_003922.4(HERC1):c.8964C>T (p.Val2988=) rs2229748 0.00161
NM_003922.4(HERC1):c.6159C>T (p.His2053=) rs115606097 0.00151
NM_003922.4(HERC1):c.6057C>T (p.Gly2019=) rs201690555 0.00140
NM_003922.4(HERC1):c.999C>T (p.Tyr333=) rs200680431 0.00132
NM_003922.4(HERC1):c.9144C>T (p.Thr3048=) rs80201845 0.00126
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met) rs201387092 0.00086
NM_003922.4(HERC1):c.6420G>A (p.Val2140=) rs373459995 0.00086
NM_003922.4(HERC1):c.4483G>A (p.Glu1495Lys) rs201335263 0.00065
NM_003922.4(HERC1):c.8542G>A (p.Gly2848Ser) rs79711865 0.00065
NM_003922.4(HERC1):c.10291-9C>A rs374631238 0.00052
NM_003922.4(HERC1):c.9439G>A (p.Val3147Ile) rs200243610 0.00051
NM_003922.4(HERC1):c.8444G>A (p.Gly2815Glu) rs149457868 0.00043
NM_003922.4(HERC1):c.9682G>A (p.Ala3228Thr) rs201312041 0.00013
NM_003922.4(HERC1):c.14406C>T (p.Tyr4802=) rs576248226 0.00001
NM_003922.4(HERC1):c.4396C>T (p.Arg1466Ter)
NM_003922.4(HERC1):c.4464-15G>T rs116375944
NM_003922.4(HERC1):c.4464-16del rs369792267
NM_003922.4(HERC1):c.4464-25_4464-24dup rs369792267
NM_003922.4(HERC1):c.4464-25dup rs369792267
NM_003922.4(HERC1):c.4692T>C (p.His1564=)
NM_003922.4(HERC1):c.621A>G (p.Ser207=)
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_003922.4(HERC1):c.9216G>A (p.Val3072=)
NM_003922.4(HERC1):c.9273A>G (p.Glu3091=)
NM_003922.4(HERC1):c.9742C>T (p.Arg3248Ter)

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