ClinVar Miner

List of variants reported as likely pathogenic for Familial dysautonomia by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.3931+1G>T rs143674809 0.00010
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter) rs376078668 0.00004
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter) rs926177767 0.00003
NM_003640.5(ELP1):c.2499dup (p.Lys834Ter) rs767527819 0.00002
NM_003640.5(ELP1):c.1461-1G>A rs539544212 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003640.5(ELP1):c.2860+2T>C rs754348901 0.00001
NM_003640.5(ELP1):c.552+1G>T rs765572951 0.00001
NM_003640.5(ELP1):c.1154del (p.Asn384_Ser385insTer) rs774890086
NM_003640.5(ELP1):c.1189+1G>A rs1554699327
NM_003640.5(ELP1):c.1360+1G>T rs1201626345
NM_003640.5(ELP1):c.1461-1G>T rs539544212
NM_003640.5(ELP1):c.1469_1470del (p.Gln489_Phe490insTer) rs1554698037
NM_003640.5(ELP1):c.147_150+1dup rs1319053366
NM_003640.5(ELP1):c.150+1G>A rs1554703831
NM_003640.5(ELP1):c.151-1G>A rs1554703613
NM_003640.5(ELP1):c.151-1G>T rs1554703613
NM_003640.5(ELP1):c.1750+1G>T rs770668926
NM_003640.5(ELP1):c.1751-2A>T rs1554697001
NM_003640.5(ELP1):c.1854+1G>A rs1554696934
NM_003640.5(ELP1):c.1902_1903del (p.Asp634_Ile635insTer) rs1554696650
NM_003640.5(ELP1):c.1908+2T>A rs1554696648
NM_003640.5(ELP1):c.1A>T (p.Met1Leu) rs1554703907
NM_003640.5(ELP1):c.2014+1G>A rs1554696574
NM_003640.5(ELP1):c.2076dup (p.Arg693fs) rs763445509
NM_003640.5(ELP1):c.2158del (p.His720fs) rs1057516865
NM_003640.5(ELP1):c.2204+1G>A rs1057517169
NM_003640.5(ELP1):c.2205-1G>C rs1554695846
NM_003640.5(ELP1):c.2587+2T>G rs1554695299
NM_003640.5(ELP1):c.2817C>A (p.Tyr939Ter) rs749052963
NM_003640.5(ELP1):c.2958+1G>C rs1239081703
NM_003640.5(ELP1):c.304-2A>G rs757972943
NM_003640.5(ELP1):c.3346+1G>A rs760774999
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs) rs781333644
NM_003640.5(ELP1):c.3701-1G>A rs1554691572
NM_003640.5(ELP1):c.385+1G>A rs1554703061
NM_003640.5(ELP1):c.386-2A>C rs1554702880
NM_003640.5(ELP1):c.54del (p.Asn20fs) rs1554703874
NM_003640.5(ELP1):c.552+2T>A rs1554702142
NM_003640.5(ELP1):c.641del (p.Pro214fs) rs759412460
NM_003640.5(ELP1):c.79C>T (p.Arg27Ter) rs868073099
NM_003640.5(ELP1):c.97del (p.Val33fs) rs1554703851

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.