ClinVar Miner

Variants in gene combination HSALR1, PIEZO1 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
387 71 0 45 52 0 1 92

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 1 0 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 0 1 0 27 31
likely benign 0 0 27 0 44
benign 0 0 31 44 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01373
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00895
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_001142864.4(PIEZO1):c.2139C>T (p.His713=) rs36067616 0.00564
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) rs187832410 0.00523
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) rs139100986 0.00450
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) rs146687530 0.00396
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731 0.00374
NM_001142864.4(PIEZO1):c.1297-6G>A rs111945967 0.00352
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=) rs145579632 0.00338
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) rs140142474 0.00321
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) rs188815734 0.00277
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly) rs59550107 0.00144
NM_001142864.4(PIEZO1):c.666C>T (p.Val222=) rs541555439 0.00129
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00107
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) rs533555270 0.00069
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) rs143004911 0.00056
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) rs191302762 0.00038
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys) rs182793773 0.00031
NM_001142864.4(PIEZO1):c.954C>T (p.Val318=) rs543604569 0.00026
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00024
NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val) rs574402639 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00010
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00004
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) rs767600698 0.00004
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp) rs536446748 0.00003
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) rs947487272 0.00003
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys)
NM_001142864.4(PIEZO1):c.1107+6C>T
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met)
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys)
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His)
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met)
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe)
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys)
NM_001142864.4(PIEZO1):c.2181-14G>A
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln)
NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del) rs144269709
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu)
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
NM_001142864.4(PIEZO1):c.2307C>G (p.His769Gln)
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)
NM_001142864.4(PIEZO1):c.2652C>T (p.Ser884=)
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
NM_001142864.4(PIEZO1):c.2673C>T (p.Pro891=)
NM_001142864.4(PIEZO1):c.2696C>T (p.Thr899Met)
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=) rs765257824
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.469G>C (p.Asp157His)
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg)
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.