ClinVar Miner

List of variants studied for lysosomal glycogen storage disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1194+5G>A rs2039153749
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) rs781124934
NM_002294.3(LAMP2):c.64+16C>T rs780307352

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