ClinVar Miner

List of variants reported as benign for Glycogen storage disease type III by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000642.3(AGL):c.*732C>T rs3766600 0.61998
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51611
NM_000642.3(AGL):c.*1028C>T rs3766601 0.47451
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.*1541T>C rs3766603 0.40438
NM_000642.3(AGL):c.*1296A>C rs1804809 0.37745
NM_000642.3(AGL):c.*272G>T rs1804808 0.32438
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05621
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.02082
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01517
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01398
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01347
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01311
NM_000642.3(AGL):c.*739A>G rs41285742 0.01299
NM_000642.3(AGL):c.*575G>T rs60880558 0.01050
NM_000642.3(AGL):c.*1244T>A rs72963791 0.01047
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_000642.3(AGL):c.4162-11G>A rs184309460

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