ClinVar Miner

List of variants reported as uncertain significance for Tay-Sachs disease AB variant by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000405.5(GM2A):c.244G>C (p.Val82Leu) rs139014924 0.00023
NM_000405.5(GM2A):c.506G>A (p.Arg169His) rs104893892 0.00023
NM_000405.5(GM2A):c.575G>T (p.Gly192Val) rs751291017 0.00023
NM_000405.5(GM2A):c.254T>G (p.Val85Gly) rs143999954 0.00021
NM_000405.5(GM2A):c.517G>A (p.Val173Ile) rs532003642 0.00008
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly) rs761692942 0.00007
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys) rs761084552 0.00003
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg) rs764022955 0.00002
NM_000405.5(GM2A):c.139G>A (p.Val47Met) rs1269101684 0.00001
NM_000405.5(GM2A):c.13A>T (p.Met5Leu) rs557461469 0.00001
NC_000005.9:g.(?_150632778)_(150646494_?)dup
NC_000005.9:g.(?_150632778)_(150727021_?)dup
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln) rs762676667
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)
NM_000405.5(GM2A):c.178G>A (p.Val60Ile) rs201829650
NM_000405.5(GM2A):c.178G>C (p.Val60Leu) rs201829650
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)
NM_000405.5(GM2A):c.207G>A (p.Met69Ile) rs2114032524
NM_000405.5(GM2A):c.207G>C (p.Met69Ile)
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe) rs1753894633
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg) rs2127240636
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)
NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser) rs771081390
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
NM_000405.5(GM2A):c.81+4A>G
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro) rs1582070376
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)

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.