ClinVar Miner

List of variants studied for Familial hypokalemia-hypomagnesemia by 3billion

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val) rs1467657889 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) rs387907469 0.00001
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.2238G>A (p.Trp746Ter)
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe) rs755475785
NM_001126108.2(SLC12A3):c.843_846dup (p.Ser283fs)
NM_001126108.2(SLC12A3):c.979del (p.Gln327fs)

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