ClinVar Miner

List of variants reported as uncertain significance for Familial hypokalemia-hypomagnesemia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.*2295T>C rs181993451 0.00333
NM_001126108.2(SLC12A3):c.*576C>G rs139828223 0.00271
NM_001126108.2(SLC12A3):c.*2405C>T rs769553356 0.00258
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.*1532G>A rs531355050 0.00175
NM_001126108.2(SLC12A3):c.*960A>T rs545337733 0.00163
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.*2320T>A rs186173400 0.00129
NM_001126108.2(SLC12A3):c.*2030T>C rs540004549 0.00121
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001126108.2(SLC12A3):c.*458T>C rs565029718 0.00090
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.*282T>A rs569410134 0.00063
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.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.1180+10C>T rs368574873 0.00027
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) rs139329616 0.00025
NM_001126108.2(SLC12A3):c.*1512G>A rs142981886 0.00024
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) rs56125220 0.00023
NM_001126108.2(SLC12A3):c.*518T>A rs886052167 0.00022
NM_001126108.2(SLC12A3):c.*1985G>A rs535923100 0.00021
NM_001126108.2(SLC12A3):c.*2133T>C rs574216318 0.00021
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) rs201130736 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.*2423C>T rs545437813 0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) rs201696394 0.00016
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.*285T>C rs539777837 0.00011
NM_001126108.2(SLC12A3):c.-5C>T rs200585631 0.00011
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr) rs142414514 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.*1920A>G rs760358705 0.00010
NM_001126108.2(SLC12A3):c.*735C>T rs749653890 0.00010
NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His) rs373163077 0.00010
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001126108.2(SLC12A3):c.*18C>G rs2289112 0.00008
NM_001126108.2(SLC12A3):c.*2051C>T rs569306925 0.00008
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) rs201341355 0.00008
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser) rs143774019 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001126108.2(SLC12A3):c.*1624C>T rs886052171 0.00006
NM_001126108.2(SLC12A3):c.*836G>A rs149793899 0.00006
NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr) rs149644636 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) rs368455032 0.00005
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.853-12C>T rs376908568 0.00005
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) rs748652939 0.00004
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) rs752124879 0.00004
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) rs56259558 0.00004
NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu) rs141867836 0.00004
NM_001126108.2(SLC12A3):c.2987C>A (p.Thr996Asn) rs201058248 0.00004
NM_001126108.2(SLC12A3):c.*2084G>A rs577055452 0.00003
NM_001126108.2(SLC12A3):c.*2378A>T rs886052176 0.00003
NM_001126108.2(SLC12A3):c.*349G>A rs886052162 0.00003
NM_001126108.2(SLC12A3):c.1050G>A (p.Ser350=) rs752171513 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu) rs200253241 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.*2358T>C rs886052175 0.00002
NM_001126108.2(SLC12A3):c.*243C>T rs886052161 0.00002
NM_001126108.2(SLC12A3):c.*733A>G rs554943055 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001126108.2(SLC12A3):c.*102T>C rs886052159 0.00001
NM_001126108.2(SLC12A3):c.*1266G>T rs886052169 0.00001
NM_001126108.2(SLC12A3):c.*1323G>C rs886052170 0.00001
NM_001126108.2(SLC12A3):c.*1745T>C rs886052172 0.00001
NM_001126108.2(SLC12A3):c.*1896A>T rs886052173 0.00001
NM_001126108.2(SLC12A3):c.*2318A>C rs886052174 0.00001
NM_001126108.2(SLC12A3):c.*317T>C rs933472377 0.00001
NM_001126108.2(SLC12A3):c.*53A>G rs1388199048 0.00001
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.1248C>T (p.Cys416=) rs766672339 0.00001
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001126108.2(SLC12A3):c.1442A>G (p.Gln481Arg) rs1303866177 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.1606T>C (p.Phe536Leu) rs748650798 0.00001
NM_001126108.2(SLC12A3):c.1783G>A (p.Val595Met) rs201432183 0.00001
NM_001126108.2(SLC12A3):c.1817A>G (p.Lys606Arg) rs1287765860 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) rs758304056 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.430-12C>T rs759198908 0.00001
NM_001126108.2(SLC12A3):c.430-13C>T rs773727087 0.00001
NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=) rs1335054266 0.00001
NM_001126108.2(SLC12A3):c.*1000A>G rs886052168
NM_001126108.2(SLC12A3):c.*1142C>G rs2055729446
NM_001126108.2(SLC12A3):c.*1446G>T rs1054078123
NM_001126108.2(SLC12A3):c.*1456A>G rs766017472
NM_001126108.2(SLC12A3):c.*209T>A rs886052160
NM_001126108.2(SLC12A3):c.*2104G>C rs534529573
NM_001126108.2(SLC12A3):c.*2329T>C rs2055742120
NM_001126108.2(SLC12A3):c.*2340G>T rs2055742161
NM_001126108.2(SLC12A3):c.*2343T>C rs2055742189
NM_001126108.2(SLC12A3):c.*2412del rs886052177
NM_001126108.2(SLC12A3):c.*495G>A rs886052163
NM_001126108.2(SLC12A3):c.*515_*516insA rs886052166
NM_001126108.2(SLC12A3):c.*524dup rs11347677
NM_001126108.2(SLC12A3):c.*895G>A rs1046715582
NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=) rs1159677951
NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=) rs761193208
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1229C>A (p.Thr410Asn) rs886052157
NM_001126108.2(SLC12A3):c.1412C>A (p.Ala471Asp) rs201341355
NM_001126108.2(SLC12A3):c.1513C>A (p.Pro505Thr) rs1486448470
NM_001126108.2(SLC12A3):c.1726A>G (p.Ile576Val) rs2055277862
NM_001126108.2(SLC12A3):c.1881C>T (p.Tyr627=) rs2055295668
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp) rs1489892274
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2225T>G (p.Phe742Cys) rs2055341573
NM_001126108.2(SLC12A3):c.2272A>C (p.Ile758Leu) rs886052158
NM_001126108.2(SLC12A3):c.2378T>C (p.Val793Ala) rs2055395686
NM_001126108.2(SLC12A3):c.2419+9C>T rs2055396681
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.2603A>G (p.Gln868Arg) rs2055437395
NM_001126108.2(SLC12A3):c.286G>A (p.Glu96Lys) rs886052156
NM_001126108.2(SLC12A3):c.2972T>C (p.Met991Thr) rs1210754569
NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro) rs747197324
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) rs1964322979
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610

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