List of variants reported as pathogenic for sinoatrial node disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)	rs45620037	0.00068
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)	rs199473072	0.00009
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp)	rs199473303	0.00005
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)	rs757532106	0.00004
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)	rs199473101	0.00003
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)	rs199473097	0.00001
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu)	rs28937319	0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)	rs137854601	0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)	rs45546039	0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)	rs794727637	0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)	rs104894485	0.00001
NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	rs1553704183
NM_000335.5(SCN5A):c.1936del (p.Gln646fs)	rs727505158
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)	rs199473161
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)	rs397514450
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)	rs137854612
NM_000335.5(SCN5A):c.4242+1G>C	rs794728879
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)	rs137854613
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)	rs1060501127
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	rs794728849
NM_005273.4(GNB2):c.155G>T (p.Arg52Leu)	rs948934468
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly)	rs1057519276
NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg)	rs121908411
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)	rs1057519275
NM_005477.3(HCN4):c.1631del (p.Pro544fs)	rs1057519015
NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs)	rs1057519274
NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg)	rs104894488

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.