ClinVar Miner

List of variants in gene SLC12A1 reported as pathogenic for not provided

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 0.00003
NM_000338.3(SLC12A1):c.2873+1G>A rs201930377 0.00002
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.1405A>T (p.Arg469Ter) rs2041559629 0.00001
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456 0.00001
GRCh37/hg19 15q21.1(chr15:48545362-48581182)x1
NC_000015.9:g.(?_48499917)_(48500356_?)del
NC_000015.9:g.(?_48512811)_(48525055_?)del
NC_000015.9:g.(?_48547988)_(48548127_?)del
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1166dup (p.Ala390fs)
NM_000338.3(SLC12A1):c.1315C>T (p.Arg439Ter)
NM_000338.3(SLC12A1):c.1411C>T (p.Arg471Ter)
NM_000338.3(SLC12A1):c.1419del (p.Glu473fs)
NM_000338.3(SLC12A1):c.1478del (p.Gly493fs)
NM_000338.3(SLC12A1):c.1614T>A (p.Tyr538Ter)
NM_000338.3(SLC12A1):c.1614T>G (p.Tyr538Ter)
NM_000338.3(SLC12A1):c.1627G>T (p.Glu543Ter)
NM_000338.3(SLC12A1):c.1644T>A (p.Tyr548Ter)
NM_000338.3(SLC12A1):c.1670del (p.Ala557fs)
NM_000338.3(SLC12A1):c.1687G>T (p.Glu563Ter)
NM_000338.3(SLC12A1):c.1687dup (p.Glu563fs) rs865973286
NM_000338.3(SLC12A1):c.1733C>G (p.Ser578Ter)
NM_000338.3(SLC12A1):c.186dup (p.Arg63Ter)
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000338.3(SLC12A1):c.2047C>T (p.Gln683Ter)
NM_000338.3(SLC12A1):c.2150_2151del (p.Phe717fs)
NM_000338.3(SLC12A1):c.2155G>T (p.Gly719Ter)
NM_000338.3(SLC12A1):c.2221A>T (p.Lys741Ter)
NM_000338.3(SLC12A1):c.2233A>T (p.Lys745Ter)
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2244T>G (p.Tyr748Ter)
NM_000338.3(SLC12A1):c.2281C>T (p.Arg761Ter)
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) rs1057520303
NM_000338.3(SLC12A1):c.2507del (p.Gln836fs)
NM_000338.3(SLC12A1):c.2572C>T (p.Arg858Ter)
NM_000338.3(SLC12A1):c.2584A>T (p.Lys862Ter) rs1318795841
NM_000338.3(SLC12A1):c.2589del (p.Ala864fs)
NM_000338.3(SLC12A1):c.2628del (p.Asp877fs)
NM_000338.3(SLC12A1):c.2654C>A (p.Ser885Ter)
NM_000338.3(SLC12A1):c.2716C>T (p.Gln906Ter) rs1597456179
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
NM_000338.3(SLC12A1):c.2744G>A (p.Trp915Ter)
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) rs776749406
NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs) rs764247288
NM_000338.3(SLC12A1):c.2952_2955del (p.Asn984fs)
NM_000338.3(SLC12A1):c.2963G>A (p.Trp988Ter)
NM_000338.3(SLC12A1):c.2964G>A (p.Trp988Ter)
NM_000338.3(SLC12A1):c.3057G>A (p.Trp1019Ter)
NM_000338.3(SLC12A1):c.3075del (p.Glu1025fs)
NM_000338.3(SLC12A1):c.3098del (p.Ser1033fs)
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.450_451del (p.Asp150fs)
NM_000338.3(SLC12A1):c.524_525del (p.Val175fs)
NM_000338.3(SLC12A1):c.530_531dup (p.Gly178fs)
NM_000338.3(SLC12A1):c.590_599del (p.Phe197fs)
NM_000338.3(SLC12A1):c.64C>T (p.Gln22Ter) rs2140999192
NM_000338.3(SLC12A1):c.699del (p.Ile233fs)
NM_000338.3(SLC12A1):c.847_848del (p.Val283fs)
NM_000338.3(SLC12A1):c.904del (p.Arg302fs)

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