ClinVar Miner

List of variants in gene GAA reported as likely benign for Glycogen storage disease, type II

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Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.4(GAA):c.693-5delC rs1555599563
NM_000152.4(GAA):c.858+7_858+8ins14 rs3071247
NM_000152.4(GAA):c.858+7_858+8ins21 rs3071247
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.*223C>T rs8132
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.*419G>T rs7567
NM_000152.5(GAA):c.*91G>A rs2229221
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1326+8C>A rs762988038
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.2040+16C>T rs573522544
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.2647-6G>T rs201525743
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303

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