ClinVar Miner

List of variants studied for GM1 gangliosidosis type 2 by Mendelics

Included ClinVar conditions (3):

GM1 gangliosidosis type 2
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis

Minimum submission review status:		Collection method:
Minimum conflict level:
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Total variants: 4

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HGVS	dbSNP
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	rs794729217
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)	rs756878418
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)	rs201807974
NM_000404.4(GLB1):c.846del (p.Thr283fs)	rs1553610382

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