ClinVar Miner

List of variants studied for glycogen storage disorder due to hepatic glycogen synthase deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_021957.4(GYS2):c.1701_1704del (p.Thr568fs)
NM_021957.4(GYS2):c.170_171del (p.Asp57fs)
NM_021957.4:c.171_1705del

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