ClinVar Miner

List of variants in gene SLC12A3 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
NM_000339.2(SLC12A3):c.[488C>T;2612G>A]
NM_000339.3(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383
NM_000339.3(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992
NM_000339.3(SLC12A3):c.1261T>C (p.Cys421Arg) rs28936387
NM_000339.3(SLC12A3):c.1276A>T (p.Asn426Tyr) rs200817545
NM_000339.3(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_000339.3(SLC12A3):c.179C>T (p.Thr60Met) rs371443644
NM_000339.3(SLC12A3):c.1868T>C (p.Leu623Pro) rs121909385
NM_000339.3(SLC12A3):c.1889G>T (p.Gly630Val) rs121909384
NM_000339.3(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_000339.3(SLC12A3):c.1926-1G>T
NM_000339.3(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.3(SLC12A3):c.1964G>T (p.Arg655Leu) rs121909380
NM_000339.3(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000339.3(SLC12A3):c.2581C>T (p.Arg861Cys) rs373899077
NM_000339.3(SLC12A3):c.2603del (p.Cys868fs) rs1555501632
NM_000339.3(SLC12A3):c.2747+1G>T
NM_000339.3(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.3(SLC12A3):c.506-1G>A rs201555148
NM_000339.3(SLC12A3):c.625C>T (p.Arg209Trp) rs28936388
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924
NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer) rs886041108
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
SLC12A3, 2-BP DEL, 2881AG
SLC12A3, 3-BP DEL

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