ClinVar Miner

List of variants in gene SLC12A1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001184832.2(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_001184832.2(SLC12A1):c.2834_2873+12del rs1566857461
NM_001184832.2(SLC12A1):c.668C>T (p.Thr223Met) rs377680472
NM_001184832.2(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456
NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870

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