ClinVar Miner

List of variants in gene CFTR reported as likely benign by Counsyl

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000492.3(CFTR):c.1117-31A>G rs1554381590
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.3(CFTR):c.1680-26T>C rs397508265
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.3(CFTR):c.3368-19G>A rs374104839
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.3874-26dup rs1554396371
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.489+25A>G rs531830892
NM_000492.3(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.3(CFTR):c.489+8T>C rs727504712
NM_000492.3(CFTR):c.489+91A>G rs56094102
NM_000492.3(CFTR):c.490-26delT rs781120531

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