ClinVar Miner

List of variants reported as pathogenic for Bartter disease type 1

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159 0.00033
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 0.00006
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.2042+2T>A rs1400209959 0.00001
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302 0.00001
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) rs1057520303
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.724+4A>G rs774515747
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]

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