ClinVar Miner

List of variants reported as uncertain significance for Gitelman syndrome by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 0.00006
NM_000338.3(SLC12A1):c.610G>T (p.Val204Phe) rs1442023118 0.00001
NM_000338.3(SLC12A1):c.1970C>T (p.Ala657Val) rs2041701051
NM_000388.4(CASR):c.2710G>C (p.Gly904Arg) rs2074943924
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser) rs2055210264
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) rs777612082
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile) rs1424832490
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val) rs1964378547

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