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

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		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)	rs2471354329
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	rs1407133452
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)	rs2471255852
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)	rs2471449105
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)	rs2471424667
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)	rs2471424609
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)	rs2471375071
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	rs1699002261

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