ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.489+91A>G rs56094102 0.02063
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) rs1801178 0.00006
NM_000492.4(CFTR):c.1680-26T>C rs397508265 0.00003
NM_000492.4(CFTR):c.1117-31A>G rs1554381590 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.489+25A>G rs531830892 0.00001
NM_000492.4(CFTR):c.1209+18A>C rs193922499
NM_000492.4(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.3368-19G>A rs374104839
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3874-26dup rs1554396371
NM_000492.4(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.490-26del rs781120531

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