ClinVar Miner

List of variants reported as likely pathogenic for GM2 gangliosidosis by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NM_000405.5(GM2A):c.367del (p.Glu123fs) rs1302210667
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) rs2088664194
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) rs121907983
NM_000521.4(HEXB):c.1614-7_1614-1dup rs2112188865
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) rs1749847524
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.300-1G>C rs967720287
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T rs1311903314
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) rs1749130818
NM_000521.4(HEXB):c.705C>G (p.His235Gln) rs2112156345
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) rs2112171931
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)

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.