ClinVar Miner

List of variants studied for Gitelman syndrome by OMIM

Included ClinVar conditions (2):
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) rs28936387 0.00001
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.625C>T (p.Arg209Trp) rs28936388 0.00001
NM_000339.2(SLC12A3):c.[488C>T;2612G>A]
NM_001126108.2(SLC12A3):c.1680_1682del (p.Ser561del) rs2144723103
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1889G>T (p.Gly630Val) rs121909384
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_001126108.2(SLC12A3):c.2720+1G>T rs1347239469
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621

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