List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance for not provided

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: 44

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_000492.4(CFTR):c.2989-422G>T	rs182521466	0.00168
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)	rs1800112	0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	rs376968326	0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.3367+45T>C	rs369353024	0.00010
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)	rs184724618	0.00008
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)	rs201591901	0.00006
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	rs769448889	0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)	rs397508511	0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)	rs397508542	0.00004
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	rs193922516	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3024C>T (p.Val1008=)	rs774643457	0.00002
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=)	rs537934752	0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	rs397508494	0.00001
NM_000492.4(CFTR):c.3139+8A>G	rs193922517	0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	rs140883683	0.00001
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala)	rs1792387784	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)	rs766126240	0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)	rs150020260	0.00001
NM_000492.4(CFTR):c.3273G>C (p.Leu1091Phe)	rs752753702	0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys)	rs764434414	0.00001
NM_000492.4(CFTR):c.2989-664C>G	rs1792355734
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)	rs193922731
NM_000492.4(CFTR):c.3007G>A (p.Gly1003Arg)
NM_000492.4(CFTR):c.3040_3042del (p.Tyr1014del)	rs1584821602
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe)	rs1554392043
NM_000492.4(CFTR):c.3139+25C>T
NM_000492.4(CFTR):c.3139+39del	rs1554392063
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)	rs397508504
NM_000492.4(CFTR):c.3140-17A>G	rs1383455542
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	rs121909020
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala)	rs373043500
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)	rs373043500
NM_000492.4(CFTR):c.3273G>T (p.Leu1091Phe)	rs752753702
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu)	rs1584822486

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.