List of variants in gene CSRP3 reported as likely pathogenic for cardiovascular 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: 21

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003476.5(CSRP3):c.336G>A (p.Ala112=)	rs13451	0.07238
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205	0.00006
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)	rs193922667	0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)	rs142019584	0.00004
NM_003476.5(CSRP3):c.112+1G>A	rs746990436	0.00003
NM_003476.5(CSRP3):c.128del (p.Ala43fs)	rs1187710437	0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)	rs902082118	0.00001
NM_003476.5(CSRP3):c.415-1G>T	rs775194825	0.00001
NM_003476.5(CSRP3):c.434T>G (p.Phe145Cys)	rs759269008	0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)	rs761507504	0.00001
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)	rs1850628800
NM_003476.5(CSRP3):c.281+2T>C
NM_003476.5(CSRP3):c.282-1G>A
NM_003476.5(CSRP3):c.282-5_285del	rs397516855
NM_003476.5(CSRP3):c.354G>A (p.Glu118=)	rs876657767
NM_003476.5(CSRP3):c.362del (p.Pro121fs)	rs1565050709
NM_003476.5(CSRP3):c.414+1G>A
NM_003476.5(CSRP3):c.414+1G>T	rs935867046
NM_003476.5(CSRP3):c.415-2A>C	rs1850502742
NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser)	rs1565053147
NM_003476.5(CSRP3):c.96G>A (p.Lys32=)	rs1565053085

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.