ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_000492.3(CFTR):c.1585-19T>C rs778457306
NM_000492.3(CFTR):c.1585-9T>C rs397508234
NM_000492.3(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.3(CFTR):c.1630G>A (p.Gly544Ser) rs762224063
NM_000492.3(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) rs121909044
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1679+116G>T rs207468451
NM_000492.3(CFTR):c.1679+16T>C rs397508262
NM_000492.3(CFTR):c.1679+18G>A rs369294289

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