ClinVar Miner

List of variants in gene SLC12A1 studied for Bartter syndrome

Included ClinVar conditions (8):
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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000338.2(SLC12A1):c.1522G>A rs765347751
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.206G>A (p.Cys69Tyr)
NM_001184832.2(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_001184832.2(SLC12A1):c.2435T>G (p.Ile812Arg)
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.2834_2873+12del rs1566857461
NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_001184832.2(SLC12A1):c.629-504A>G rs774515747
NM_001184832.2(SLC12A1):c.668C>T (p.Thr223Met) rs377680472
NM_001184832.2(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_001184832.2(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870

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