ClinVar Miner

List of variants reported as likely benign for Bartter disease type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00248
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738 0.00148
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) rs199877869 0.00013
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) rs141643222 0.00012
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) rs142886182 0.00011
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00006
NM_000338.3(SLC12A1):c.1561-8T>G rs778539276 0.00004
NM_000338.3(SLC12A1):c.1786+18C>T rs750119347 0.00004
NM_000338.3(SLC12A1):c.816T>C (p.Val272=) rs369827965 0.00003
NM_000338.3(SLC12A1):c.421-15A>G rs148912103 0.00002
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00001

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