ClinVar Miner

List of variants studied for GM1 gangliosidosis type 1 by Mendelics

Included ClinVar conditions (3):

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
Infantile GM1 gangliosidosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	rs794729217
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	rs1553612189
NM_000404.4(GLB1):c.553-2A>T	rs2125533195
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	rs2125533127

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