ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 19

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005235.3(ERBB4):c.1490-15T>C rs4673628 0.45282
NM_005235.3(ERBB4):c.2202+15A>G rs77836647 0.02566
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys) rs144311212 0.00011
NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met) rs374970657 0.00007
NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val) rs778047462 0.00001
NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln) rs397514262 0.00001
NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp) rs397514263 0.00001
NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser) rs1223312722 0.00001
NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)
NM_005235.3(ERBB4):c.1289+1G>C
NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala)
NM_005235.3(ERBB4):c.1947-28dup rs57466272
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn) rs1574867228
NM_005235.3(ERBB4):c.2487+8_2487+11del
NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln)
NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser) rs2125319546
NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp)
NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr)
NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)
NM_005235.3(ERBB4):c.884-7del rs67894136

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.