ClinVar Miner

Variants in gene HMCN1 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:

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
3118 560 0 47 79 0 1 127

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 uncertain significance likely benign benign
pathogenic 0 0 1 0
uncertain significance 0 0 77 2
likely benign 1 77 0 47
benign 0 2 47 0

All variants with conflicting interpretations #

Total variants: 127
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.6029-11G>T rs10911802 0.00678
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser) rs74967568 0.00644
NM_031935.3(HMCN1):c.6029-4T>C rs10911803 0.00637
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met) rs146418772 0.00526
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=) rs138332626 0.00466
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=) rs144346158 0.00426
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.1152A>G (p.Lys384=) rs151284138 0.00331
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=) rs151256828 0.00293
NM_031935.3(HMCN1):c.12771T>C (p.His4257=) rs115171363 0.00282
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=) rs144191448 0.00252
NM_031935.3(HMCN1):c.13313-5C>T rs184095385 0.00249
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.4475+9C>A rs111694556 0.00208
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=) rs144776594 0.00173
NM_031935.3(HMCN1):c.14336G>A (p.Arg4779Gln) rs144926247 0.00128
NM_031935.3(HMCN1):c.3434G>A (p.Ser1145Asn) rs142909496 0.00115
NM_031935.3(HMCN1):c.10064T>C (p.Leu3355Ser) rs146143836 0.00110
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=) rs142864872 0.00108
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=) rs140049629 0.00100
NM_031935.3(HMCN1):c.9686T>C (p.Met3229Thr) rs144560225 0.00094
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp) rs146671871 0.00090
NM_031935.3(HMCN1):c.9721A>G (p.Ile3241Val) rs151211018 0.00086
NM_031935.3(HMCN1):c.11206G>A (p.Ala3736Thr) rs138190200 0.00081
NM_031935.3(HMCN1):c.1402G>A (p.Val468Ile) rs142754121 0.00077
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn) rs61732179 0.00076
NM_031935.3(HMCN1):c.9808G>C (p.Ala3270Pro) rs138290901 0.00076
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.10532A>G (p.Glu3511Gly) rs143629026 0.00063
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser) rs138178673 0.00057
NM_031935.3(HMCN1):c.2212+8T>G rs183165464 0.00054
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=) rs565658664 0.00052
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg) rs150734874 0.00052
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys) rs34692227 0.00046
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe) rs140559544 0.00046
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val) rs199613884 0.00046
NM_031935.3(HMCN1):c.437G>A (p.Arg146Gln) rs146401446 0.00045
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr) rs150226500 0.00044
NM_031935.3(HMCN1):c.10661G>T (p.Gly3554Val) rs79568371 0.00040
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser) rs141099682 0.00040
NM_031935.3(HMCN1):c.7145C>T (p.Ala2382Val) rs140744695 0.00039
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys) rs137942830 0.00038
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr) rs150811327 0.00037
NM_031935.3(HMCN1):c.698T>C (p.Val233Ala) rs141324048 0.00037
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly) rs182468717 0.00035
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln) rs201563661 0.00031
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=) rs138776748 0.00030
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln) rs140296295 0.00030
NM_031935.3(HMCN1):c.36G>C (p.Leu12=) rs76631922 0.00029
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val) rs41317503 0.00028
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile) rs145758069 0.00027
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile) rs199585281 0.00024
NM_031935.3(HMCN1):c.12377G>A (p.Arg4126His) rs141573564 0.00024
NM_031935.3(HMCN1):c.5651A>T (p.Gln1884Leu) rs142871818 0.00024
NM_031935.3(HMCN1):c.861G>A (p.Val287=) rs138455877 0.00024
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His) rs148097981 0.00022
NM_031935.3(HMCN1):c.4996G>T (p.Ala1666Ser) rs150757617 0.00022
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val) rs141213545 0.00021
NM_031935.3(HMCN1):c.6361G>A (p.Val2121Met) rs142475959 0.00021
NM_031935.3(HMCN1):c.9720A>T (p.Ser3240=) rs745784876 0.00020
NM_031935.3(HMCN1):c.4993G>C (p.Ala1665Pro) rs148365191 0.00019
NM_031935.3(HMCN1):c.1546G>A (p.Val516Ile) rs199966462 0.00016
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile) rs530178194 0.00016
NM_031935.3(HMCN1):c.9888-5C>T rs142970299 0.00016
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu) rs199984579 0.00014
NM_031935.3(HMCN1):c.14555C>G (p.Pro4852Arg) rs374597394 0.00013
NM_031935.3(HMCN1):c.12230-3T>C rs200662005 0.00012
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser) rs757430423 0.00010
NM_031935.3(HMCN1):c.14140G>A (p.Val4714Met) rs770936849 0.00009
NM_031935.3(HMCN1):c.14177G>A (p.Gly4726Asp) rs149329415 0.00009
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys) rs200897962 0.00008
NM_031935.3(HMCN1):c.4547G>A (p.Arg1516Gln) rs751511835 0.00008
NM_031935.3(HMCN1):c.4850C>T (p.Thr1617Met) rs757566490 0.00008
NM_031935.3(HMCN1):c.16759C>G (p.Leu5587Val) rs538970775 0.00007
NM_031935.3(HMCN1):c.4816C>A (p.Pro1606Thr) rs776501578 0.00007
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile) rs376810057 0.00007
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=) rs144621380 0.00006
NM_031935.3(HMCN1):c.4940C>T (p.Thr1647Met) rs775412545 0.00006
NM_031935.3(HMCN1):c.10280A>G (p.Asn3427Ser) rs903500513 0.00004
NM_031935.3(HMCN1):c.10907A>G (p.Asn3636Ser) rs191557299 0.00004
NM_031935.3(HMCN1):c.14491G>A (p.Gly4831Arg) rs774478146 0.00004
NM_031935.3(HMCN1):c.15514C>T (p.Arg5172Cys) rs554554647 0.00004
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys) rs575710648 0.00004
NM_031935.3(HMCN1):c.769A>G (p.Met257Val) rs140971270 0.00004
NM_031935.3(HMCN1):c.9887+4T>G rs746668370 0.00004
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met) rs367681878 0.00004
NM_031935.3(HMCN1):c.10592G>A (p.Gly3531Glu) rs752255369 0.00003
NM_031935.3(HMCN1):c.10904G>A (p.Arg3635Gln) rs777872545 0.00003
NM_031935.3(HMCN1):c.11277A>G (p.Arg3759=) rs369293880 0.00003
NM_031935.3(HMCN1):c.14597A>T (p.Gln4866Leu) rs756922825 0.00003
NM_031935.3(HMCN1):c.1957G>A (p.Val653Met) rs754249769 0.00003
NM_031935.3(HMCN1):c.2768G>A (p.Arg923Gln) rs144772706 0.00003
NM_031935.3(HMCN1):c.4414G>A (p.Ala1472Thr) rs763411017 0.00003
NM_031935.3(HMCN1):c.5530G>A (p.Val1844Ile) rs748993057 0.00003
NM_031935.3(HMCN1):c.8291-10T>G rs762043503 0.00003
NM_031935.3(HMCN1):c.12068A>G (p.Lys4023Arg) rs747682416 0.00002
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp) rs773577908 0.00002
NM_031935.3(HMCN1):c.13811G>A (p.Arg4604His) rs147789097 0.00002
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=) rs373603132 0.00002
NM_031935.3(HMCN1):c.6083C>T (p.Pro2028Leu) rs138900807 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_031935.3(HMCN1):c.9475G>A (p.Glu3159Lys) rs747548086 0.00002
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile) rs201008146 0.00001
NM_031935.3(HMCN1):c.14162G>C (p.Arg4721Thr) rs200402956 0.00001
NM_031935.3(HMCN1):c.14524G>A (p.Asp4842Asn) rs1319739012 0.00001
NM_031935.3(HMCN1):c.4624A>G (p.Ile1542Val) rs2102095661 0.00001
NM_031935.3(HMCN1):c.7304T>A (p.Ile2435Asn) rs540128845 0.00001
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys) rs573119781 0.00001
NM_031935.3(HMCN1):c.7968A>G (p.Ile2656Met) rs757774354 0.00001
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg) rs748058327 0.00001
NM_031935.3(HMCN1):c.10508A>G (p.Lys3503Arg) rs931050117
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro) rs141818688
NM_031935.3(HMCN1):c.11153G>A (p.Gly3718Asp) rs140251121
NM_031935.3(HMCN1):c.12691-12_12691-9del rs751950084
NM_031935.3(HMCN1):c.14742T>C (p.Asn4914=) rs754127646
NM_031935.3(HMCN1):c.2099-4dup rs758484035
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln) rs568780532
NM_031935.3(HMCN1):c.5014A>G (p.Ile1672Val)

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