List of variants reported as pathogenic for Familial hypokalemia-hypomagnesemia by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.602-16G>A	rs750901478	0.00009
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	rs373901523	0.00008
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)	rs371443644	0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)	rs768527231	0.00004
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)	rs147901432	0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His)	rs267607051	0.00003
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)	rs755069436	0.00002
NM_001126108.2(SLC12A3):c.1367del (p.Leu456fs)	rs2055210001	0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)	rs753523115	0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)	rs185927948	0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)	rs267607050	0.00001
NM_001126108.2(SLC12A3):c.1992del (p.Phe665fs)
NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys)
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter)
NM_001126108.2(SLC12A3):c.965-1_976delinsACCGAAAATTTT

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