ClinVar Miner

List of variants studied for glycogen storage disease III by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.3362G>T (p.Arg1121Met) rs1653326843
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911del (p.Asn1304fs) rs745757264

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