ClinVar Miner

List of variants studied for GM1 gangliosidosis type 2 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

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.75+2dup	rs587776525	0.00021
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	rs564428355	0.00008
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359	0.00001
NM_000404.4(GLB1):c.713C>T (p.Thr238Ile)	rs2471397513

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