ClinVar Miner

List of variants reported as uncertain significance for Bartter disease type 4B

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys) rs139564196 0.00359
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile) rs138110172 0.00332
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_000085.5(CLCNKB):c.1375A>C (p.Asn459His) rs765895186 0.00012
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_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) rs553594726 0.00006
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201 0.00006
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
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_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) rs375288190 0.00003
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) rs146627440 0.00003
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) rs746767761 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_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_004070.4(CLCNKA):c.1425_1426del (p.Ala477fs)
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) rs762119830
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu) rs773206825
NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)

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