ClinVar Miner

List of variants studied for glycogen storage disorder due to hepatic glycogen synthase deficiency by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter) rs201157731 0.00005
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro) rs121918421 0.00004
NM_021957.4(GYS2):c.1094_1098del (p.Phe365fs) rs2136877292
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.601A>T (p.Ile201Leu)

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