ClinVar Miner

List of variants studied for Gitelman syndrome by Revvity Omics, Revvity

Included ClinVar conditions (2):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
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.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
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.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
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.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met) rs749234287
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) rs1294865855
NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
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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