ClinVar Miner

List of variants reported as pathogenic for Bartter disease type 1 by OMIM

Included ClinVar conditions (1):
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Total variants: 10
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NM_000338.2(SLC12A1):c.1137del (p.Phe380Serfs) rs1057520300
NM_000338.2(SLC12A1):c.1833del (p.Phe611Leufs) rs1057520304
NM_000338.2(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159
NM_000338.2(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.2(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157
NM_000338.2(SLC12A1):c.2095del (p.Asp699Thrfs) rs1057519608
NM_000338.2(SLC12A1):c.2498_2499del (p.Arg833Ilefs) rs1057520303
NM_000338.2(SLC12A1):c.2787dup (p.Thr931Asnfs) rs1057520302
NM_000338.2(SLC12A1):c.724+4A>G rs774515747
NM_000338.2(SLC12A1):c.814G>T (p.Val272Phe) rs137853158

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