List of variants in gene CFTR reported as uncertain significance for digestive system disorder

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: 98

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.*482C>T	rs147862180	0.00163
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	rs1800072	0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	rs145900055	0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	rs150691494	0.00019
NM_000492.4(CFTR):c.489+3A>G	rs377729736	0.00016
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)	rs397508395	0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	rs371107552	0.00012
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)	rs143860237	0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)	rs142432539	0.00011
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	rs149353983	0.00010
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)	rs397508814	0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)	rs397508430	0.00008
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)	rs377731410	0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)	rs368393738	0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)	rs146947665	0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	rs772774651	0.00006
NM_000492.4(CFTR):c.489+87A>G	rs969399514	0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)	rs397508802	0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	rs112162204	0.00006
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)	rs201295415	0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)	rs148604667	0.00005
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)	rs141880790	0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)	rs397508397	0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)	rs200885306	0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	rs775701644	0.00004
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)	rs397508185	0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)	rs397508210	0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	rs773018372	0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)	rs145449046	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)	rs377295859	0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)	rs769931559	0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)	rs145545286	0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)	rs368427311	0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)	rs397508670	0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	rs775713428	0.00003
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	rs370586917	0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)	rs749662161	0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)	rs751474685	0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	rs367850319	0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)	rs193922533	0.00002
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	rs766063304	0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	rs754152822	0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	rs397508220	0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)	rs745538406	0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)	rs1472821278	0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly)	rs766181463	0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)	rs780528577	0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)	rs1434504483	0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys)	rs397508565	0.00001
NM_000492.4(CFTR):c.3468+6T>C	rs547442588	0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro)	rs76371115	0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	rs397508699	0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	rs149197463	0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)	rs397508725	0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)	rs1056986309	0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)	rs148013312	0.00001
NM_000492.4(CFTR):c.*842del	rs886061953
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)	rs1800086
NM_000492.4(CFTR):c.109A>T (p.Ile37Leu)	rs759721412
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)	rs1396443734
NM_000492.4(CFTR):c.1209+80G>A	rs948980243
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)	rs77646904
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)	rs1800097
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser)	rs397508292
NM_000492.4(CFTR):c.1934T>C (p.Met645Thr)	rs377731410
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)	rs200204024
NM_000492.4(CFTR):c.2491-1136_2619+2230del
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe)	rs780187979
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)	rs1584813846
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)	rs397508417
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn)	rs201864483
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)	rs201864483
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)	rs749784731
NM_000492.4(CFTR):c.2914A>G (p.Ile972Val)	rs2116069322
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)	rs1554391473
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)	rs758250836
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)	rs397508548
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)	rs397508550
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	rs1800120
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	rs397508617
NM_000492.4(CFTR):c.3874-5122_3963+733del
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)	rs1793109904
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	rs578029902
NM_000492.4(CFTR):c.640C>G (p.Leu214Val)	rs188457893
NM_000492.4(CFTR):c.92G>A (p.Arg31His)	rs149353983

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