ClinVar Miner

List of variants studied for Tay-Sachs disease by Myriad Genetics, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
GRCh37/hg19 15q23(chr15:72662932-72670877)
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter) rs1322698222
NM_000520.6(HEXA):c.103del (p.Gln35fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter) rs2088635583
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter) rs2088635505
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter) rs1415609256
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter) rs2088635332
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)
NM_000520.6(HEXA):c.207_208del (p.Asp70fs)
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter) rs2088784856
NM_000520.6(HEXA):c.288del (p.Val97fs)
NM_000520.6(HEXA):c.314del (p.Asn105fs)
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter) rs2088766427
NM_000520.6(HEXA):c.400_401del (p.Gly134fs)
NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter) rs2088732981
NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)
NM_000520.6(HEXA):c.822_823del (p.Thr275fs)
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter) rs2088660599

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