ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.274-1G>A rs121908792 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) rs80282562 0.00002
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter) rs79031340 0.00002
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile) rs77409459 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter) rs77101217 0.00001
NM_000492.4(CFTR):c.1572C>A (p.Cys524Ter) rs121908754 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 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.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter) rs121908749 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.273+1G>A rs121908791 0.00001
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter) rs121908763 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3744del (p.Lys1250fs) rs121908784 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs) rs121908785
NM_000492.4(CFTR):c.1171G>T (p.Glu391Ter)
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
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.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer) rs121908776
NM_000492.4(CFTR):c.1547_1550del (p.Arg516fs)
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe) rs77646904
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.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs) rs121908779
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.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter) rs75115087
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.262_263del (p.Leu88fs) rs121908769
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.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
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.313del (p.Ile105fs) rs121908801
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.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
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.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
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.442del (p.Ile148fs) rs121908770
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.531del (p.Ile177fs) rs121908771
NM_000492.4(CFTR):c.534_538del (p.Gln179fs)
NM_000492.4(CFTR):c.580-1G>T rs121908793
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.803del (p.Asn268fs) rs121908772
NM_000492.4(CFTR):c.817A>T (p.Lys273Ter) rs1296578005
NM_000492.4(CFTR):c.915_916del (p.Phe305fs)
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968

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