ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as not provided for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000492.3(CFTR):c.1585-2A>G rs397508233
NM_000492.3(CFTR):c.1585-9T>A rs397508234
NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.3(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.3(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.3(CFTR):c.1648G>A (p.Gly550Arg) rs397508247
NM_000492.3(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.3(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.3(CFTR):c.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.3(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.3(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.3(CFTR):c.1679+5A>G rs397508264

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