ClinVar Miner

List of variants in gene combination CLCNKB, LOC106501713 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) rs121909134
NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) rs121909135
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) rs1057516207
NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter) rs370221310
NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) rs121909131
NM_000085.4(CLCNKB):c.610G>A (p.Ala204Thr) rs121909132
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs)
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)

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