ClinVar Miner

List of variants reported as likely pathogenic for hereditary hyperekplexia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.184+2T>C rs1754097992 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NC_000004.11:g.(?_158091564)_(158091880_?)del
NC_000004.12:g.(?_157170412)_(157170748_?)del
NC_000011.9:g.(?_20668360)_(20668500_?)dup
NC_000023.10:g.(?_62875364)_(62944601_?)del
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
NM_000171.4(GLRA1):c.184+1G>A
NM_000171.4(GLRA1):c.560-1G>C rs748908505
NM_000171.4(GLRA1):c.697+1G>A rs1753002738
NM_000171.4(GLRA1):c.697+2T>A
NM_000171.4(GLRA1):c.698-2del rs1752914673
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.913-1G>A
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)
NM_000824.5(GLRB):c.297+1G>T rs771465893
NM_004211.5(SLC6A5):c.1260+1G>T rs2133788446
NM_004211.5(SLC6A5):c.1624+2T>C
NM_004211.5(SLC6A5):c.1641T>G (p.Phe547Leu) rs2133808393
NM_004211.5(SLC6A5):c.1738-1G>C
NM_004211.5(SLC6A5):c.1966T>C (p.Tyr656His)
NM_004211.5(SLC6A5):c.2070+2T>G
NM_004211.5(SLC6A5):c.2071-1G>A
NM_004211.5(SLC6A5):c.3+1G>T
NM_004211.5(SLC6A5):c.3+2T>C
NM_004211.5(SLC6A5):c.679+1G>A rs1590154255
NM_004211.5(SLC6A5):c.680-2A>G
NM_004211.5(SLC6A5):c.710T>C (p.Leu237Pro) rs2133774690
NM_004211.5(SLC6A5):c.985+1G>A

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.