ClinVar Miner

List of variants reported as likely benign for GM1 gangliosidosis type 2 by Counsyl

Included ClinVar conditions (3):

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	rs202237232
NM_000404.4(GLB1):c.858C>T (p.Thr286=)	rs770638519

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