List of variants in gene CAV3 reported as uncertain significance for Long QT syndrome

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys)	rs139786391	0.00011
NM_033337.3(CAV3):c.109G>C (p.Val37Leu)	rs374523166	0.00004
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)	rs199476325	0.00003
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg)	rs760170984	0.00002
NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr)	rs963028152	0.00001
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)	rs763666060	0.00001
NM_033337.3(CAV3):c.88A>C (p.Lys30Gln)	rs730880425	0.00001
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)	rs753431407	0.00001
NM_033337.3(CAV3):c.103G>C (p.Asp35His)
NM_033337.3(CAV3):c.110T>C (p.Val37Ala)	rs886039060
NM_033337.3(CAV3):c.114+3A>G
NM_033337.3(CAV3):c.114+5G>C	rs1354029651
NM_033337.3(CAV3):c.17A>T (p.His6Leu)	rs1233979640
NM_033337.3(CAV3):c.19A>G (p.Thr7Ala)
NM_033337.3(CAV3):c.32C>T (p.Ala11Val)	rs867194464
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	rs1707652057
NM_033337.3(CAV3):c.36G>T (p.Gln12His)	rs1553613127
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn)	rs1707652520
NM_033337.3(CAV3):c.50T>C (p.Ile17Thr)
NM_033337.3(CAV3):c.53A>G (p.His18Arg)	rs730880424
NM_033337.3(CAV3):c.58A>C (p.Lys20Gln)
NM_033337.3(CAV3):c.58A>G (p.Lys20Glu)	rs1707653132
NM_033337.3(CAV3):c.5T>C (p.Met2Thr)	rs375301072
NM_033337.3(CAV3):c.71T>C (p.Leu24Pro)	rs1707653769
NM_033337.3(CAV3):c.7G>A (p.Ala3Thr)	rs1291499448
NM_033337.3(CAV3):c.85C>T (p.Pro29Ser)	rs116840785
NM_033337.3(CAV3):c.86C>A (p.Pro29His)	rs116840786
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu)	rs116840786
NM_033337.3(CAV3):c.99_102delinsT (p.Glu34del)	rs1559640153

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.