ClinVar Miner

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

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_001184832.2(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_001184832.2(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_001184832.2(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159
NM_001184832.2(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_001184832.2(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157
NM_001184832.2(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_001184832.2(SLC12A1):c.2494_2495GA[2] (p.Arg833fs) rs1057520303
NM_001184832.2(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302
NM_001184832.2(SLC12A1):c.629-504A>G rs774515747
NM_001184832.2(SLC12A1):c.814G>T (p.Val272Phe) rs137853158

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