ClinVar Miner

List of variants reported as benign for Adult polyglucosan body disease by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
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.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146

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