ClinVar Miner

List of variants studied for GM1 gangliosidosis type 3 by Myriad Genetics, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) rs1697334156
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) rs1699086565
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.835del (p.Gln279fs)
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) rs1699002261

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