ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His) rs121908758 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
NM_000492.4(CFTR):c.1447A>T (p.Lys483Ter) rs1799418948
NM_000492.4(CFTR):c.1472_1482del (p.Cys491fs)
NM_000492.4(CFTR):c.1483del (p.Ser495fs)
NM_000492.4(CFTR):c.1488G>A (p.Trp496Ter) rs200626971
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
NM_000492.4(CFTR):c.1731C>A (p.Tyr577Ter) rs55928397
NM_000492.4(CFTR):c.1735_1736del (p.Asp579fs)
NM_000492.4(CFTR):c.1766+1G>T rs121908748
NM_000492.4(CFTR):c.1778_1779del (p.Lys593fs)
NM_000492.4(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1822del (p.Glu608fs)
NM_000492.4(CFTR):c.1861G>T (p.Glu621Ter) rs1792033327
NM_000492.4(CFTR):c.1867_1869delinsG (p.Ser623fs)
NM_000492.4(CFTR):c.1893_1897del (p.Glu632fs)
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1997T>A (p.Leu666Ter) rs1792036942
NM_000492.4(CFTR):c.2241del (p.Ile748fs)
NM_000492.4(CFTR):c.2283dup (p.Gln762fs)
NM_000492.4(CFTR):c.2379del (p.Val794fs)
NM_000492.4(CFTR):c.2410G>T (p.Glu804Ter) rs1792049376
NM_000492.4(CFTR):c.2426C>A (p.Ser809Ter) rs1457971953
NM_000492.4(CFTR):c.2617G>T (p.Glu873Ter) rs1792100143
NM_000492.4(CFTR):c.2646G>A (p.Trp882Ter) rs1792246412
NM_000492.4(CFTR):c.269T>A (p.Leu90Ter) rs397508421
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.2757C>G (p.Tyr919Ter) rs1408746819
NM_000492.4(CFTR):c.2824del (p.Ile942fs)
NM_000492.4(CFTR):c.283A>T (p.Lys95Ter)
NM_000492.4(CFTR):c.2891_2892delinsA (p.Leu964fs)
NM_000492.4(CFTR):c.2948del (p.Leu983fs)
NM_000492.4(CFTR):c.332del (p.Pro111fs) rs2116670123
NM_000492.4(CFTR):c.3398_3399del (p.Leu1133fs)
NM_000492.4(CFTR):c.3428T>A (p.Leu1143Ter)
NM_000492.4(CFTR):c.3493_3494delinsT (p.Lys1165fs)
NM_000492.4(CFTR):c.3547A>T (p.Lys1183Ter)
NM_000492.4(CFTR):c.3567dup (p.Val1190fs)
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3587C>A (p.Ser1196Ter) rs121908763
NM_000492.4(CFTR):c.3682G>T (p.Glu1228Ter) rs759116351
NM_000492.4(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.4(CFTR):c.3717+4A>G rs387906362
NM_000492.4(CFTR):c.3782_3783del (p.Leu1261fs)
NM_000492.4(CFTR):c.3793G>T (p.Gly1265Ter)
NM_000492.4(CFTR):c.3836T>A (p.Leu1279Ter)
NM_000492.4(CFTR):c.3845G>A (p.Trp1282Ter) rs1792935619
NM_000492.4(CFTR):c.3949A>T (p.Lys1317Ter) rs1793110279
NM_000492.4(CFTR):c.4032T>A (p.Cys1344Ter)
NM_000492.4(CFTR):c.4054C>T (p.Gln1352Ter) rs751098333
NM_000492.4(CFTR):c.441_442del (p.Ile148fs)
NM_000492.4(CFTR):c.480_483del (p.Tyr161fs)
NM_000492.4(CFTR):c.502_503del (p.Ser168fs)
NM_000492.4(CFTR):c.520_530del (p.Lys174fs)
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
NM_000492.4(CFTR):c.617T>A (p.Leu206Ter)
NM_000492.4(CFTR):c.741C>A (p.Tyr247Ter) rs1800082
NM_000492.4(CFTR):c.742A>T (p.Arg248Ter) rs1554380515
NM_000492.4(CFTR):c.751A>T (p.Arg251Ter) rs1798959540
NM_000492.4(CFTR):c.772del (p.Arg258fs)
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) rs1296578005
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)

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