ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease type III by Counsyl

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Total variants: 21
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HGVS dbSNP
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn) rs1553185488
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del) rs1361477641
NM_000642.3(AGL):c.1877A>G (p.His626Arg) rs1553186368
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr) rs1553186370
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639dup) rs1553186447
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del) rs1553183207
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del) rs766308910
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del) rs1553188647
NM_000642.3(AGL):c.3083+5_3083+6del rs781189361
NM_000642.3(AGL):c.3191_3193dup (p.Asp1065_Val1066insVal) rs1553188824
NM_000642.3(AGL):c.3259+3A>T rs748859491
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3836+1_3836+2dup rs1553192407
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del) rs1300198233
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del) rs1553193523
NM_000642.3(AGL):c.847-7T>A rs750785301

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