ClinVar Miner

List of variants reported as uncertain significance for glycogen storage disease VI by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):

Glycogen storage disease, type VI

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)	rs539898848
NM_002863.5(PYGL):c.2178-8_2178-7insT
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)	rs1043083798

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