ClinVar Miner

List of variants in gene CFTR, LOC111674463 studied for cystic fibrosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000492.3(CFTR):c.-102A= rs1797973431 0.99999
NG_016465.4:g.18346T>G rs4148682 0.10044
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000492.4(CFTR):c.-887C>T rs34465975 0.01630
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.-812T>G rs181008242 0.00375
NM_000492.3(CFTR):c.-461A>G rs185028612 0.00200
NM_000492.3(CFTR):c.-1043dup rs574740041 0.00109
NM_000492.3(CFTR):c.-448A>G rs943663200 0.00041
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000492.3(CFTR):c.-165G>A rs145483167 0.00010
NM_000492.3(CFTR):c.-152G>C rs551681003 0.00007
NM_000492.3(CFTR):c.-837T>C rs1415964307 0.00002
NC_000007.14:g.117478787A>G rs1195721615 0.00001
NM_000492.4(CFTR):c.-602A>T rs879620559 0.00001
NC_000007.14:g.117479234del rs4148683
NC_000007.14:g.117479900C>A
NM_000492.3(CFTR):c.-232G>T
NM_000492.3(CFTR):c.-234T>A rs982968807
NM_000492.3(CFTR):c.-288G>C rs139688774
NM_000492.3(CFTR):c.-495C>T rs397507565
NM_000492.3(CFTR):c.-507A>G
NM_000492.3(CFTR):c.-512C>G
NM_000492.3(CFTR):c.-600dup rs747238661
NM_000492.3(CFTR):c.-674T>C rs1554372953
NM_000492.3(CFTR):c.-85C>G rs530414231
NM_000492.3(CFTR):c.-887_-885del rs397507564
NM_000492.3(CFTR):c.-893_-891del rs780557040
NM_000492.4(CFTR):c.-11C>T rs1797976181
NM_000492.4(CFTR):c.-13C>A
NM_000492.4(CFTR):c.-1C>G
NM_000492.4(CFTR):c.-2C>T rs770363945
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.-439G>A rs1797962499
NM_000492.4(CFTR):c.-7A>T
NM_000492.4(CFTR):c.-8G>A rs1800501
NM_000492.4(CFTR):c.-8GA[4] rs1554373081
NM_000492.4(CFTR):c.-939A>G rs1584763860
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136

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