ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease XV; Polyglucosan body myopathy 2

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Total variants: 10
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HGVS dbSNP
NM_001184721.1(GYG1):c.609-2498A>T rs1211466583
NM_004130.3(GYG1):c.439A>G (p.Asn147Asp) rs140175164
NM_004130.3(GYG1):c.662A>C (p.Asn221Thr) rs1412348949
NM_004130.3(GYG1):c.883G>A (p.Asp295Asn) rs202085215
NM_004130.3(GYG1):c.961C>T (p.Arg321Trp) rs138596591
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)

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