ClinVar Miner

List of variants studied for Glycogen storage disease type III by Centre for Human Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1423+1G>C rs751952198
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter) rs757870729
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2949+5G>A rs1652885754
NM_000642.3(AGL):c.2996del (p.Pro999fs) rs1652909202
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter) rs752840373
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) rs1653326843
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter) rs762602838
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter) rs1655136943
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr) rs1655521504
NM_000642.3(AGL):c.664+1G>C rs61811105
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.947_948del (p.Leu316fs) rs1650934988

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