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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)	rs148038173	0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	rs373901523	0.00008
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	rs34803727	0.00005
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)	rs771701344	0.00001
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)	rs748920885
NM_001126108.2(SLC12A3):c.983_1010del (p.Asn328fs)	rs2144695518

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