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

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Total variants: 10

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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.2787dup (p.Thr931fs)	rs1057520302	0.00001
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs)	rs1057520300
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)	rs1057520304
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp)	rs1057520301
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs)	rs1057519608
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs)	rs1057520303
NM_000338.3(SLC12A1):c.724+4A>G	rs774515747
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe)	rs137853158

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