ClinVar Miner

List of variants reported as not provided for GM1 gangliosidosis type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000404.4(GLB1):c.1061T>G (p.Ile354Ser) rs397515613
NM_000404.4(GLB1):c.1150A>T (p.Thr384Ser) rs397515614
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.456A>T (p.Pro152=) rs397515618
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617

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