List of variants reported as likely pathogenic for Familial hypokalemia-hypomagnesemia by MGZ Medical Genetics Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)	rs748920885	0.00002
NM_001126108.2(SLC12A3):c.741+1G>A	rs1187506921	0.00001
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)

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