ClinVar Miner

List of variants in gene CFTR, LOC111674463 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_000492.3(CFTR):c.-1043dup rs574740041 0.00109
NM_000492.3(CFTR):c.-288G>C rs139688774

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