ClinVar Miner

Variants in gene HMCN1 with conflicting interpretations

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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
2582 209 0 40 10 1 0 51

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.

uncertain significance likely benign benign risk factor
uncertain significance 0 10 0 0
likely benign 10 0 40 1
benign 0 40 0 0
risk factor 0 1 0 0

All variants with conflicting interpretations #

Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala) rs79183244 0.01053
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00676
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00555
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00444
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00443
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=) rs151284138 0.00356
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=) rs41317479 0.00347
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=) rs148467349 0.00333
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00295
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00272
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00253
NM_031935.3(HMCN1):c.4475+9C>A rs111694556 0.00229
NM_031935.3(HMCN1):c.15256+4A>T rs184102616 0.00225
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=) rs141581919 0.00222
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile) rs140493567 0.00218
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=) rs78613732 0.00210
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00191
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00101
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00095
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr) rs138190200 0.00081
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg) rs121434382 0.00070
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=) rs146867591 0.00070
NM_031935.3(HMCN1):c.2778G>A (p.Lys926=) rs149049922 0.00068
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00056
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00050
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00033
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) rs41317503 0.00028
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281 0.00024
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00020
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00019
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.9887+4T>G rs746668370 0.00004
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) rs752255369 0.00003
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln) rs144772706 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00001
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.12691-12_12691-9del rs751950084
NM_031935.3(HMCN1):c.14742T>C (p.Asn4914=)
NM_031935.3(HMCN1):c.2099-4dup
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr)
NM_031935.3(HMCN1):c.8291-10T>G
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys)

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