List of variants reported as pathogenic for Familial hypokalemia-hypomagnesemia by Revvity Omics, Revvity

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	rs759377924	0.00009
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)	rs202114767	0.00008
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	rs199849117	0.00008
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)	rs1274973729	0.00004
NM_001126108.2(SLC12A3):c.1670-191C>T	rs374182921	0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	rs147901432	0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)	rs748575829	0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	rs775931992	0.00002
NM_001126108.2(SLC12A3):c.1180+1G>T	rs749098014	0.00001
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)	rs121909385	0.00001
NM_001126108.2(SLC12A3):c.506-1G>A	rs201555148	0.00001
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)	rs200697179
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs)	rs1294865855

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