ClinVar Miner

List of variants in gene SLC12A3 reported as likely benign for Familial hypokalemia-hypomagnesemia

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1925+72C>G rs12596776 0.08327
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr) rs36049418 0.01075
NM_001126108.2(SLC12A3):c.*1647C>T rs115285739 0.00668
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437 0.00523
NM_001126108.2(SLC12A3):c.*1161A>G rs16963782 0.00446
NM_001126108.2(SLC12A3):c.*752C>T rs8049491 0.00434
NM_001126108.2(SLC12A3):c.*1978T>G rs147734763 0.00294
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
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.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
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.2028C>T (p.His676=) rs35070204 0.00073
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.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001126108.2(SLC12A3):c.2368+18C>A rs370563622 0.00021
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
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.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys) rs201804135 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.2285+7C>T rs774342870 0.00009
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.1932G>A (p.Gln644=) rs749222099 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
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.1956C>A (p.Pro652=) rs200091201 0.00004
NM_001126108.2(SLC12A3):c.2514C>T (p.Asp838=) rs142297310 0.00004
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.348G>A (p.Gly116=) rs149890322 0.00003
NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=) rs753403903 0.00003
NM_001126108.2(SLC12A3):c.2121C>G (p.Ala707=) rs762500731 0.00002
NM_001126108.2(SLC12A3):c.2419+8G>A rs372318235 0.00002
NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=) rs1215392195 0.00001
NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=) rs1297766065 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.2037+10C>T rs774757777 0.00001
NM_001126108.2(SLC12A3):c.2038-6C>T rs1287454816 0.00001
NM_001126108.2(SLC12A3):c.2172C>T (p.Leu724=) rs201038360 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=) rs745611719 0.00001
NM_001126108.2(SLC12A3):c.2331G>A (p.Arg777=) rs1269639917 0.00001
NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=) rs139943829 0.00001
NM_001126108.2(SLC12A3):c.2673T>C (p.His891=) rs769641982 0.00001
NM_001126108.2(SLC12A3):c.333C>T (p.His111=) rs867887117 0.00001
NM_001126108.2(SLC12A3):c.741+9G>A rs761526794 0.00001
NM_001126108.2(SLC12A3):c.*524del rs11347677
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1568-5C>T rs751475080
NM_001126108.2(SLC12A3):c.2076C>T (p.Ile692=) rs780880719
NM_001126108.2(SLC12A3):c.2285+10_2285+12del rs562443353
NM_001126108.2(SLC12A3):c.2368+185C>T rs1394574663
NM_001126108.2(SLC12A3):c.2369-191C>T rs912634409
NM_001126108.2(SLC12A3):c.2522-218_2522-215del rs1396799568
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=) rs2144766852
NM_001126108.2(SLC12A3):c.430-472_430-461del rs553429427
NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=) rs766590120
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610
NM_001126108.2(SLC12A3):c.792C>T (p.Ala264=)

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