ClinVar Miner

List of variants in gene LOC126862361, SLC12A3 studied for Familial hypokalemia-hypomagnesemia

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.*205A>G rs5805 0.63172
NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=) rs2289113 0.01151
NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=) rs35082264 0.00802
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) rs201696394 0.00016
NM_001126108.2(SLC12A3):c.2961C>T (p.Ser987=) rs760690845 0.00010
NM_001126108.2(SLC12A3):c.*18C>G rs2289112 0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
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.3026G>A (p.Arg1009Gln) rs370175770 0.00004
NM_001126108.2(SLC12A3):c.*102T>C rs886052159 0.00001
NM_001126108.2(SLC12A3):c.*53A>G rs1388199048 0.00001
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter) rs781209989 0.00001
NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg) rs762026283 0.00001
NM_001126108.2(SLC12A3):c.*209T>A rs886052160
NM_001126108.2(SLC12A3):c.2925-1G>A
NM_001126108.2(SLC12A3):c.2925-33A>G rs1567452700
NM_001126108.2(SLC12A3):c.2937A>T (p.Ile979=) rs1596964738
NM_001126108.2(SLC12A3):c.2963_2966dup (p.Tyr990fs) rs769798104
NM_001126108.2(SLC12A3):c.2972T>C (p.Met991Thr) rs1210754569
NM_001126108.2(SLC12A3):c.3056A>G (p.Tyr1019Cys) rs572393663

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