ClinVar Miner

List of variants reported as uncertain significance for Familial hypokalemia-hypomagnesemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.2930T>C (p.Leu977Ser) rs201696394 0.00016
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
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.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
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.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001126108.2(SLC12A3):c.1601A>G (p.Asn534Ser) rs780433336 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318

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