List of variants reported as uncertain significance for Bartter syndrome by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

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HGVS	dbSNP	gnomAD frequency
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	rs137893258	0.00103
NM_153766.3(KCNJ1):c.-21-2138C>T	rs34191956	0.00071
NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)	rs387907405	0.00041
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp)	rs145862077	0.00022
NM_153766.3(KCNJ1):c.298A>G (p.Thr100Ala)	rs138440917	0.00022
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser)	rs142360465	0.00021
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu)	rs180847164	0.00019
NM_153766.3(KCNJ1):c.1116G>A (p.Met372Ile)	rs141900128	0.00015
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)	rs370908136	0.00014
NM_057176.3(BSND):c.763G>C (p.Glu255Gln)	rs148609746	0.00014
NM_057176.3(BSND):c.872A>G (p.Glu291Gly)	rs146313023	0.00013
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His)	rs765895186	0.00012
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln)	rs144177117	0.00011
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu)	rs772354744	0.00011
NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)	rs748305494	0.00011
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile)	rs745782009	0.00009
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val)	rs371971275	0.00008
NM_153766.3(KCNJ1):c.1019T>G (p.Leu340Arg)	rs201176686	0.00008
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln)	rs141652885	0.00007
NM_153766.3(KCNJ1):c.506G>A (p.Arg169His)	rs759992526	0.00007
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr)	rs553594726	0.00006
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met)	rs191148564	0.00006
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)	rs369637809	0.00006
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr)	rs201516084	0.00006
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=)	rs139304412	0.00005
NM_057176.3(BSND):c.673C>T (p.Gln225Ter)	rs776107884	0.00005
NM_057176.3(BSND):c.770A>G (p.Gln257Arg)	rs199696535	0.00005
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys)	rs779196821	0.00004
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)	rs370019965	0.00004
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro)	rs375157909	0.00004
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe)	rs752324675	0.00004
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser)	rs145003411	0.00004
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)	rs376830687	0.00004
NM_153766.3(KCNJ1):c.34C>T (p.Arg12Cys)	rs139738175	0.00004
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)	rs375288190	0.00003
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val)	rs146627440	0.00003
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala)	rs772144467	0.00003
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=)	rs199833808	0.00003
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile)	rs139589325	0.00003
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)	rs942607677	0.00003
NM_057176.3(BSND):c.287C>T (p.Pro96Leu)	rs765579274	0.00003
NM_057176.3(BSND):c.514G>A (p.Glu172Lys)	rs774559680	0.00003
NM_057176.3(BSND):c.64G>A (p.Gly22Ser)	rs145048739	0.00003
NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile)	rs762988627	0.00003
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln)	rs746767761	0.00002
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)	rs1486744140	0.00002
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu)	rs781250971	0.00002
NM_153766.3(KCNJ1):c.-21-2122C>T	rs111249880	0.00002
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys)	rs1400122692	0.00001
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)	rs387907411	0.00001
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His)	rs779327388	0.00001
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser)	rs2023168679	0.00001
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly)	rs774989723	0.00001
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His)	rs537641866	0.00001
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp)	rs1473447476	0.00001
NM_057176.3(BSND):c.670C>A (p.Pro224Thr)	rs1465563174	0.00001
NM_057176.3(BSND):c.737C>T (p.Ala246Val)	rs926142735	0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys)	rs387907439	0.00001
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser)	rs1557468183
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala)	rs1036163503
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe)	rs563102186
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr)	rs143141941
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys)	rs1175659978
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg)	rs201516084
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu)	rs140747686
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu)	rs1254425688
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile)	rs770328592
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)	rs367562995
NM_057176.3(BSND):c.10G>A (p.Glu4Lys)	rs121908145
NM_057176.3(BSND):c.467C>A (p.Ala156Asp)	rs1644395855
NM_057176.3(BSND):c.868A>G (p.Lys290Glu)	rs1285206495
NM_153766.3(KCNJ1):c.*1C>G
NM_153766.3(KCNJ1):c.578G>C (p.Arg193Pro)	rs150299230

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