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:

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
607 142 0 76 102 0 3 164

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 4 0 0 0
likely pathogenic 4 0 2 1 0
uncertain significance 0 2 0 51 68
likely benign 0 1 51 0 72
benign 0 0 68 72 0

All variants with conflicting interpretations #

Total variants: 164
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.3129C>T (p.Leu1043=) rs61742732 0.01802
NM_001142864.4(PIEZO1):c.2992-18G>A rs190814667 0.01297
NM_001142864.4(PIEZO1):c.1297-14T>C rs11860864 0.01282
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00851
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00822
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00736
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln) rs202139830 0.00625
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 0.00490
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) rs139100986 0.00416
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00400
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) rs146687530 0.00396
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00395
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731 0.00374
NM_001142864.4(PIEZO1):c.1998-5C>T rs188058617 0.00361
NM_001142864.4(PIEZO1):c.2330-16C>T rs9940889 0.00354
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.2655C>T (p.Asn885=) rs140224299 0.00222
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00179
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.2215G>C (p.Glu739Gln) rs567192344 0.00112
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00104
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00094
NM_001142864.4(PIEZO1):c.1251C>T (p.His417=) rs183684596 0.00088
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) rs143004911 0.00076
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) rs533555270 0.00069
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.1591C>T (p.Arg531Cys) rs146505418 0.00065
NM_001142864.4(PIEZO1):c.2421G>C (p.Arg807=) rs576808158 0.00050
NM_001142864.4(PIEZO1):c.1009C>T (p.Pro337Ser) rs556220156 0.00046
NM_001142864.4(PIEZO1):c.1014C>T (p.Ser338=) rs186493886 0.00046
NM_001142864.4(PIEZO1):c.1232C>T (p.Pro411Leu) rs369091041 0.00044
NM_001142864.4(PIEZO1):c.1679G>A (p.Arg560Gln) rs371837534 0.00043
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00040
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) rs191302762 0.00038
NM_001142864.4(PIEZO1):c.1364C>T (p.Thr455Met) rs184704952 0.00038
NM_001142864.4(PIEZO1):c.1107+6C>T rs374599949 0.00037
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00033
NM_001142864.4(PIEZO1):c.2167C>T (p.Arg723Cys) rs182793773 0.00031
NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala) rs748155949 0.00031
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=) rs559567603 0.00030
NM_001142864.4(PIEZO1):c.2889C>G (p.Ala963=) rs533382499 0.00030
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00027
NM_001142864.4(PIEZO1):c.954C>T (p.Val318=) rs543604569 0.00026
NM_001142864.4(PIEZO1):c.1297-4G>A rs368073019 0.00025
NM_001142864.4(PIEZO1):c.2307C>G (p.His769Gln) rs776396482 0.00025
NM_001142864.4(PIEZO1):c.1196-6C>T rs771307810 0.00022
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.645C>G (p.His215Gln) rs559847737 0.00019
NM_001142864.4(PIEZO1):c.469G>C (p.Asp157His) rs561856394 0.00017
NM_001142864.4(PIEZO1):c.757G>A (p.Gly253Arg) rs142027562 0.00017
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.1828C>T (p.Leu610Phe) rs747972920 0.00016
NM_001142864.4(PIEZO1):c.2181-14G>A rs552306481 0.00016
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His) rs774090082 0.00015
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00013
NM_001142864.4(PIEZO1):c.1970G>A (p.Arg657His) rs770023621 0.00012
NM_001142864.4(PIEZO1):c.1006C>T (p.Arg336Cys) rs746213600 0.00011
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001142864.4(PIEZO1):c.2392G>A (p.Val798Ile) rs931204966 0.00011
NM_001142864.4(PIEZO1):c.2857C>T (p.Arg953Cys) rs774602954 0.00011
NM_001142864.4(PIEZO1):c.2879C>T (p.Pro960Leu) rs746410402 0.00011
NM_001142864.4(PIEZO1):c.1427C>T (p.Thr476Met) rs766289147 0.00010
NM_001142864.4(PIEZO1):c.1466G>A (p.Arg489His) rs534638031 0.00009
NM_001142864.4(PIEZO1):c.2722C>T (p.Arg908Trp) rs755398062 0.00009
NM_001142864.4(PIEZO1):c.972C>T (p.Tyr324=) rs374283466 0.00009
NM_001142864.4(PIEZO1):c.1196-4G>C rs946453254 0.00007
NM_001142864.4(PIEZO1):c.1504C>T (p.Arg502Cys) rs750545429 0.00007
NM_001142864.4(PIEZO1):c.2765G>C (p.Gly922Ala) rs575773932 0.00007
NM_001142864.4(PIEZO1):c.2911A>G (p.Thr971Ala) rs780025201 0.00007
NM_001142864.4(PIEZO1):c.920G>A (p.Gly307Asp) rs773795281 0.00007
NM_001142864.4(PIEZO1):c.988C>T (p.Arg330Cys) rs546108970 0.00007
NM_001142864.4(PIEZO1):c.2914C>T (p.Arg972Cys) rs756067217 0.00005
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) rs767600698 0.00004
NM_001142864.4(PIEZO1):c.1152C>T (p.Ile384=) rs1032909939 0.00003
NM_001142864.4(PIEZO1):c.1296+8G>T rs961586768 0.00003
NM_001142864.4(PIEZO1):c.1442G>A (p.Arg481His) rs947487272 0.00003
NM_001142864.4(PIEZO1):c.1574C>T (p.Thr525Ile) rs765825619 0.00003
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00003
NM_001142864.4(PIEZO1):c.2152G>A (p.Gly718Ser) rs755885744 0.00003
NM_001142864.4(PIEZO1):c.2440G>A (p.Val814Ile) rs753334715 0.00003
NM_001142864.4(PIEZO1):c.2673C>T (p.Pro891=) rs776536395 0.00003
NM_001142864.4(PIEZO1):c.766G>A (p.Gly256Ser) rs1226821306 0.00003
NM_001142864.4(PIEZO1):c.812C>T (p.Ala271Val) rs930735351 0.00003
NM_001142864.4(PIEZO1):c.1682C>T (p.Thr561Met) rs759869189 0.00002
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=) rs905035716 0.00002
NM_001142864.4(PIEZO1):c.2832C>T (p.Ile944=) rs754795016 0.00002
NM_001142864.4(PIEZO1):c.539G>A (p.Arg180Gln) rs1353290865 0.00002
NM_001142864.4(PIEZO1):c.1163T>C (p.Leu388Pro) rs771886999 0.00001
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val) rs765206082 0.00001
NM_001142864.4(PIEZO1):c.1375C>T (p.Arg459Cys) rs752473164 0.00001
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) rs914435870 0.00001
NM_001142864.4(PIEZO1):c.1718A>G (p.Lys573Arg) rs1052196774 0.00001
NM_001142864.4(PIEZO1):c.1797C>G (p.Val599=) rs1217615579 0.00001
NM_001142864.4(PIEZO1):c.2207T>C (p.Leu736Pro) rs999049540 0.00001
NM_001142864.4(PIEZO1):c.2390A>G (p.Asp797Gly) rs1362985118 0.00001
NM_001142864.4(PIEZO1):c.2552G>A (p.Arg851Gln) rs746901224 0.00001
NM_001142864.4(PIEZO1):c.2652C>T (p.Ser884=) rs1229422527 0.00001
NM_001142864.4(PIEZO1):c.538C>G (p.Arg180Gly) rs897963232 0.00001
NM_001142864.4(PIEZO1):c.1049C>T (p.Ala350Val) rs752246983
NM_001142864.4(PIEZO1):c.1131C>T (p.Asp377=)
NM_001142864.4(PIEZO1):c.1141_1143del (p.Asp381del) rs543368793
NM_001142864.4(PIEZO1):c.1296+13G>T rs143301625
NM_001142864.4(PIEZO1):c.1297-59_1298del
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.1361G>A (p.Trp454Ter) rs2507916894
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter) rs776709730
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.1534C>T (p.Pro512Ser) rs763516197
NM_001142864.4(PIEZO1):c.1708G>A (p.Glu570Lys)
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.1813A>G (p.Met605Val)
NM_001142864.4(PIEZO1):c.1849-5G>A
NM_001142864.4(PIEZO1):c.1930G>A (p.Val644Ile) rs1314158150
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys) rs534048899
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu) rs1223247493
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln) rs144777557
NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del) rs144269709
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu) rs59446030
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.2315C>T (p.Thr772Met) rs561264067
NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[3] rs747907132
NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys) rs776672249
NM_001142864.4(PIEZO1):c.2664+7del rs556884023
NM_001142864.4(PIEZO1):c.2696C>T (p.Thr899Met) rs755628262
NM_001142864.4(PIEZO1):c.2697G>T (p.Thr899=) rs973943297
NM_001142864.4(PIEZO1):c.2727G>A (p.Gly909=)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2764G>T (p.Gly922Trp) rs765114227
NM_001142864.4(PIEZO1):c.2779G>T (p.Gly927Cys)
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.2875G>C (p.Ala959Pro)
NM_001142864.4(PIEZO1):c.2923C>G (p.Leu975Val) rs750362416
NM_001142864.4(PIEZO1):c.2941G>A (p.Gly981Ser) rs529542524
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3010G>A (p.Val1004Met)
NM_001142864.4(PIEZO1):c.3053A>G (p.His1018Arg)
NM_001142864.4(PIEZO1):c.497C>T (p.Pro166Leu) rs776838552
NM_001142864.4(PIEZO1):c.608T>C (p.Leu203Pro)
NM_001142864.4(PIEZO1):c.768C>T (p.Gly256=) rs761959598
NM_001142864.4(PIEZO1):c.769G>A (p.Ala257Thr) rs751840512
NM_001142864.4(PIEZO1):c.900C>T (p.His300=) rs566585209
NM_001142864.4(PIEZO1):c.919G>A (p.Gly307Ser)

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