List of variants in gene CFTR reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000492.4(CFTR):c.2898G>A (p.Thr966=)	rs1800109	0.00907
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.3717+130_3717+131del	rs4148721	0.00237
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)	rs151235408	0.00056
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.2620-6T>C	rs371315682	0.00038
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	rs1800121	0.00029
NM_000492.4(CFTR):c.1584+12T>C	rs193922502	0.00028
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00026
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)	rs79688066	0.00025
NM_000492.4(CFTR):c.360G>A (p.Ala120=)	rs1800077	0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)	rs1800104	0.00014
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)	rs148878126	0.00012
NM_000492.4(CFTR):c.738G>A (p.Lys246=)	rs35033453	0.00011
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)	rs146804928	0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)	rs1800108	0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)	rs375845215	0.00006
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=)	rs771812900	0.00006
NM_000492.4(CFTR):c.3964-16T>C	rs199672530	0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=)	rs758147990	0.00006
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000492.4(CFTR):c.510T>A (p.Arg170=)	rs780772620	0.00005
NM_000492.4(CFTR):c.2805A>G (p.Leu935=)	rs368967922	0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=)	rs193922512	0.00004
NM_000492.4(CFTR):c.1047G>A (p.Ala349=)	rs200520623	0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=)	rs762619288	0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=)	rs201025424	0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=)	rs764201518	0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=)	rs200901072	0.00003
NM_000492.4(CFTR):c.1287C>T (p.Phe429=)	rs763577850	0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=)	rs201888075	0.00002
NM_000492.4(CFTR):c.336T>C (p.Asp112=)	rs909596175	0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)	rs200921635	0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=)	rs547248892	0.00002
NM_000492.4(CFTR):c.54-5939G>T	rs1486318196	0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=)	rs397508773	0.00002
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=)	rs926782023	0.00001
NM_000492.4(CFTR):c.2220A>G (p.Pro740=)	rs1792044298	0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=)	rs138634146	0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=)	rs762906556	0.00001
NM_000492.4(CFTR):c.2808A>G (p.Pro936=)	rs397508438	0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	rs193922513	0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=)	rs1264742569	0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)	rs759202870	0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=)	rs117400534	0.00001
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=)	rs774683612	0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=)	rs886061952	0.00001
NM_000492.4(CFTR):c.720A>G (p.Leu240=)	rs1344097861	0.00001
NM_000492.4(CFTR):c.972C>G (p.Pro324=)	rs1799834	0.00001
NM_000492.4(CFTR):c.1059A>G (p.Gln353=)	rs1800087
NM_000492.4(CFTR):c.1176A>G (p.Val392=)	rs542860881
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)	rs62469440
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)	rs2896225
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)	rs1562895049
NM_000492.4(CFTR):c.1365G>T (p.Ala455=)	rs79074685
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
NM_000492.4(CFTR):c.1392+12G>C
NM_000492.4(CFTR):c.1437G>A (p.Glu479=)	rs754152822
NM_000492.4(CFTR):c.1446T>A (p.Ile482=)	rs914422460
NM_000492.4(CFTR):c.164+14C>G
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1767-81_1767-80del	rs1584812043
NM_000492.4(CFTR):c.1950C>T (p.Phe650=)	rs200204024
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
NM_000492.4(CFTR):c.24G>A (p.Lys8=)	rs1800071
NM_000492.4(CFTR):c.2565C>G (p.Val855=)	rs1233428222
NM_000492.4(CFTR):c.2709T>C (p.Tyr903=)
NM_000492.4(CFTR):c.2899T>C (p.Leu967=)	rs1554391080
NM_000492.4(CFTR):c.3368-121_3368-118dup
NM_000492.4(CFTR):c.3480G>A (p.Val1160=)	rs1298788637
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=)	rs1800129
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=)	rs1449323479
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=)	rs1793345960
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=)	rs1793360215
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=)	rs541737583
NM_000492.4(CFTR):c.426T>C (p.Ile142=)	rs1554379864
NM_000492.4(CFTR):c.744-33GATT[8]	rs1805171
NM_000492.4(CFTR):c.[1727G>C;2002C>T]

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