ClinVar Miner

Variants in gene SLC12A3 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
1605 211 0 106 41 0 36 168

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 81 12 0 0
likely pathogenic 81 0 28 2 1
uncertain significance 12 28 0 38 6
likely benign 0 2 38 0 26
benign 0 1 6 26 0

All variants with conflicting interpretations #

Total variants: 168
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2711G>A (p.Arg904Gln) rs11643718 0.08543
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763 0.01359
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00544
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476 0.00473
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00420
NM_001126108.2(SLC12A3):c.*576C>G rs139828223 0.00271
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) rs150358489 0.00196
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00159
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00141
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00101
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00095
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=) rs146318329 0.00091
NM_001126108.2(SLC12A3):c.429+9G>A rs375425173 0.00091
NM_001126108.2(SLC12A3):c.2286-18C>T rs201972617 0.00084
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) rs149172580 0.00072
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) rs149259406 0.00069
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val) rs147517227 0.00036
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544 0.00033
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00026
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00026
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) rs139329616 0.00025
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) rs140363569 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001126108.2(SLC12A3):c.2368+8C>A rs140236327 0.00015
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) rs368455032 0.00013
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00010
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00009
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.2521+255G>A rs1037430183 0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001126108.2(SLC12A3):c.1825+4C>T rs375630796 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00005
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00005
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00003
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) rs267607051 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00003
NM_001126108.2(SLC12A3):c.1067C>T (p.Ala356Val) rs1280772093 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp) rs770702194 0.00001
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln) rs776296772 0.00001
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala) rs1335601482 0.00001
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00001
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00001
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495 0.00001
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys) rs373017321 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe) rs765240540 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) rs764833797 0.00001
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs) rs754576009 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val) rs1290372649 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)
NM_001126108.2(SLC12A3):c.1095+1G>C rs1310654829
NM_001126108.2(SLC12A3):c.1095+4A>G rs2144695925
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) rs2144711663
NM_001126108.2(SLC12A3):c.1316G>T (p.Gly439Val) rs1246053601
NM_001126108.2(SLC12A3):c.1335+1G>A rs757471117
NM_001126108.2(SLC12A3):c.1335+1G>C rs757471117
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
NM_001126108.2(SLC12A3):c.1444-2_1462dup rs1325615258
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter) rs1028685823
NM_001126108.2(SLC12A3):c.1463T>G (p.Leu488Arg)
NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys)
NM_001126108.2(SLC12A3):c.1670-1G>C rs2055276585
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys) rs146191537
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs) rs2144723594
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys)
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp) rs752101663
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2243C>T (p.Ser748Leu)
NM_001126108.2(SLC12A3):c.2368+2del rs2543531562
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter) rs747383768
NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs) rs1250318081
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs) rs2144767026
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) rs765609579
NM_001126108.2(SLC12A3):c.2903G>A (p.Arg968Gln) rs186979818
NM_001126108.2(SLC12A3):c.2924+6T>C
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) rs1294865855
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.429+1_429+28del rs2144682680
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp) rs772589653
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885

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