ClinVar Miner

List of variants in gene combination CLCNKB, LOC106501713 reported as uncertain significance for Bartter syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) rs144517772 0.00088
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
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_000085.5(CLCNKB):c.1512G>A (p.Ala504=) rs139304412 0.00005
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) rs371548242 0.00004
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133 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.1612C>T (p.Arg538Cys) rs1400122692 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.1408G>T (p.Gly470Trp) rs2124102347
NM_000085.5(CLCNKB):c.209C>A (p.Ala70Asp)
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg) rs2023105293
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) rs1557468183
NM_000085.5(CLCNKB):c.652A>C (p.Ser218Arg) rs2124091421

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