List of variants reported as likely pathogenic for Familial hypokalemia-hypomagnesemia by European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00011
NM_001126108.2(SLC12A3):c.2521+255G>A	rs1037430183	0.00007
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)	rs201945662	0.00006
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)	rs140551719	0.00004
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)	rs774753302	0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser)	rs370301695	0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)	rs748575829	0.00002
NM_001126108.2(SLC12A3):c.71C>T (p.Thr24Ile)	rs759549058	0.00002
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)	rs1375515522	0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)	rs1298687889	0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)	rs757792232	0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)	rs759426055	0.00001
NM_001126108.2(SLC12A3):c.852+243C>T	rs1384167696	0.00001
NM_001126108.2(SLC12A3):c.1444-2_1462dup	rs1325615258
NM_001126108.2(SLC12A3):c.2037+87A>G	rs1456555803
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)	rs2144733006
NM_001126108.2(SLC12A3):c.2420-37_2420-19del	rs760759330
NM_001126108.2(SLC12A3):c.2521G>C (p.Gly841Arg)	rs769412145
NM_001126108.2(SLC12A3):c.283-435_283-384dup	rs2144681043
NM_001126108.2(SLC12A3):c.2856G>A (p.Lys952=)	rs2144767166
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)	rs773428143
NM_001126108.2(SLC12A3):c.602-11T>A	rs2055071198
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val)	rs2144689378
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp)	rs1437937060

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