ClinVar Miner

List of variants studied for Gitelman syndrome by MGZ Medical Genetics Center

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
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.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.1452C>A (p.Cys484Ter)
NM_001126108.2(SLC12A3):c.1702del (p.Trp568fs)
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060

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