List of variants studied for Gitelman syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val)	rs201130736	0.00019
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.1670-191C>T	rs374182921	0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)	rs201255508	0.00003
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)	rs781137708	0.00001
NM_001126108.2(SLC12A3):c.1406C>T (p.Ala469Val)
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met)	rs749234287
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)	rs780299444
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter)	rs1244866304
NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)	rs2144677696

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