ClinVar Miner

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

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Total variants: 20
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NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.2996del (p.Pro999fs)
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
NM_000642.3(AGL):c.947_948del (p.Leu316fs)

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