ClinVar Miner

List of variants in gene GBE1 reported as benign for Glycogen storage disease, type IV

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Total variants: 25
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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.-28G>T rs368460254 0.48974
NM_000158.4(GBE1):c.-57G>A rs2290081 0.38912
NM_000158.4(GBE1):c.*176G>A rs846 0.35837
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_000158.4(GBE1):c.*152C>A rs9820089 0.06146
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146
NM_000158.4(GBE1):c.-35dup rs11391701
NM_000158.4(GBE1):c.2053-3372del rs34052684
NM_000158.4(GBE1):c.2053-3382dup rs34052684

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