ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.296C>T (p.Pro99Leu) rs397508467 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NC_000007.13:g.(?_117144294)_(117254777_?)dup
NC_000007.13:g.(?_117170943)_(117171255_?)del
NC_000007.13:g.(?_117170943)_(117243859_?)dup
NC_000007.13:g.(?_117199476)_(117199720_?)del
NC_000007.13:g.(?_117234961)_(117235122_?)del
NC_000007.13:g.(?_117267556)_(117267869_?)del
NC_000007.13:g.(?_117282468)_(117288374_?)del
NC_000007.14:g.(?_117509024)_(117509152_?)dup
NC_000007.14:g.(?_117530889)_(117540356_?)del
NC_000007.14:g.(?_117548631)_(117548835_?)del
NM_000492.4(CFTR):c.1171_1209+6del
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1373G>T (p.Gly458Val) rs121909009
NM_000492.4(CFTR):c.13C>T (p.Pro5Ser)
NM_000492.4(CFTR):c.14C>G (p.Pro5Arg)
NM_000492.4(CFTR):c.1502C>T (p.Thr501Ile) rs1799421850
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1519A>T (p.Ile507Phe) rs1801178
NM_000492.4(CFTR):c.1584+1G>T rs397508230
NM_000492.4(CFTR):c.1733T>C (p.Leu578Pro)
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.2658-1G>C rs397508416
NM_000492.4(CFTR):c.273+3A>C rs74467662
NM_000492.4(CFTR):c.273G>C (p.Gly91=) rs773739166
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2908+1G>A rs1060503164
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.4(CFTR):c.2982_2988+2del rs1554391489
NM_000492.4(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.3468+1G>T rs1554392798
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-5_3725del rs2116166586
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3964-1_3964delinsTT
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.578_579+5del rs397508760
NM_000492.4(CFTR):c.743+2T>C rs1584787119
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.931T>C (p.Phe311Leu) rs2116683801

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