ClinVar Miner

List of variants in gene SLC12A3 reported as likely 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: 19
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NM_000339.2(SLC12A3):c.1335_1335+5delGGTACT rs759801838
NM_000339.3(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_000339.3(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823
NM_000339.3(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662
NM_000339.3(SLC12A3):c.1406C>A (p.Ala469Asp)
NM_000339.3(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754
NM_000339.3(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602
NM_000339.3(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508
NM_000339.3(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231
NM_000339.3(SLC12A3):c.2522A>G (p.Asp841Gly) rs1555501437
NM_000339.3(SLC12A3):c.2576T>C (p.Leu859Pro) rs121909379
NM_000339.3(SLC12A3):c.271T>C (p.Ser91Pro) rs1555499151
NM_000339.3(SLC12A3):c.2890C>T (p.Arg964Trp) rs559626481
NM_000339.3(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.3(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000339.3(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_000339.3(SLC12A3):c.434G>A (p.Arg145His) rs374324018
NM_000339.3(SLC12A3):c.509T>C (p.Leu170Pro)
NM_000339.3(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106

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