List of variants reported as pathogenic for Familial hypokalemia-hypomagnesemia by 3billion

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Total variants: 7

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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.2546T>A (p.Leu849His)	rs185927948	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

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