ClinVar Miner

List of variants studied for Gitelman syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
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.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) rs746818109 0.00002
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) rs771326058 0.00002
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro) rs121909385 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NC_000016.9:g.(?_56899118)_56906295del
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000339.2:c.(?_-30)_885del
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) rs747139582
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) rs2144711663
NM_001126108.2(SLC12A3):c.1850A>G (p.Gln617Arg)
NM_001126108.2(SLC12A3):c.2099T>C (p.Leu700Pro)
NM_001126108.2(SLC12A3):c.2186G>C (p.Gly729Ala)
NM_001126108.2(SLC12A3):c.2369-2A>G
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
NM_001126108.2(SLC12A3):c.2814del (p.Trp939fs)
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
NM_001126108.2(SLC12A3):c.791delinsGCGTGGTCTCGGTCATTGG (p.Ala264delinsGlyValValSerValIleGly) rs2055081574
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001126108.2(SLC12A3):c.964+1G>A rs1596895536

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