ClinVar Miner

List of variants studied for Glycogen storage disease, type IV by Genome-Nilou Lab

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000158.4(GBE1):c.467G>A (p.Arg156His) rs374404487 0.00007
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892 0.00003
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn) rs775980435 0.00001
NM_000158.4(GBE1):c.-35dup rs11391701
NM_000158.4(GBE1):c.-4G>A rs1283709127

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