List of variants studied for progressive familial heart block, type 1A by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)	rs41276525	0.00065
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)	rs41311127	0.00048
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly)	rs199473113	0.00024
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)	rs199473146	0.00012
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met)	rs199473185	0.00006
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)	rs199473157	0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu)	rs1298498462	0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val)	rs776925980	0.00001
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)	rs199473099
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=)	rs2061958215
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser)	rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=)	rs1375890695
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr)	rs770780069
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val)	rs774917987

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.