ClinVar Miner

List of variants studied for Gitelman syndrome by European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 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.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001126108.2(SLC12A3):c.2521+255G>A rs1037430183 0.00007
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.2924+825C>T rs1403329930 0.00002
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile) rs759549058 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu) rs1375515522 0.00001
NM_001126108.2(SLC12A3):c.1568-1G>A rs199511487 0.00001
NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu) rs374352597 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) rs28936388 0.00001
NM_001126108.2(SLC12A3):c.852+243C>T rs1384167696 0.00001
NM_001126108.2(SLC12A3):c.1095+4A>G rs2144695925
NM_001126108.2(SLC12A3):c.1096-540_1181-347del
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn) rs2144709063
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly) rs2144712544
NM_001126108.2(SLC12A3):c.1444-2_1462dup rs1325615258
NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter) rs2144723125
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) rs779215330
NM_001126108.2(SLC12A3):c.1A>G (p.Met1Val) rs1319085522
NM_001126108.2(SLC12A3):c.201T>A (p.Tyr67Ter) rs1227599828
NM_001126108.2(SLC12A3):c.2037+87A>G rs1456555803
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2368+185C>T rs1394574663
NM_001126108.2(SLC12A3):c.2369-191C>T rs912634409
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2420-37_2420-19del rs760759330
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg) rs769412145
NM_001126108.2(SLC12A3):c.2522-218_2522-215del rs1396799568
NM_001126108.2(SLC12A3):c.2663T>C (p.Leu888Pro) rs764833797
NM_001126108.2(SLC12A3):c.2721-2A>T rs2144766556
NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser) rs2144766684
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) rs760134110
NM_001126108.2(SLC12A3):c.283-435_283-384dup rs2144681043
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=) rs2144767166
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp) rs773428143
NM_001126108.2(SLC12A3):c.2925-33A>G rs1567452700
NM_001126108.2(SLC12A3):c.3056A>G (p.Tyr1019Cys) rs572393663
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.429+1_429+28del rs2144682680
NM_001126108.2(SLC12A3):c.430-472_430-461del rs553429427
NM_001126108.2(SLC12A3):c.602-11T>A rs2055071198
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) rs2144689378
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp) rs1529927
NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe) rs2144694797
NM_001126108.2(SLC12A3):c.964+1G>T rs1596895536

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