ClinVar Miner

List of variants reported as benign for Glycogen storage disease type III by Natera, Inc.

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Total variants: 16
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HGVS dbSNP
NM_000642.3(AGL):c.-10A>G rs2307130
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.2001+8T>C rs3736296
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306

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