ClinVar Miner

List of variants studied for Glycogen storage disease XV; Polyglucosan body myopathy 2

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Total variants: 28
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HGVS dbSNP
NM_001184721.1(GYG1):c.609-2498A>T rs1211466583
NM_004130.3(GYG1):c.114C>T (p.Leu38=) rs61733452
NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) rs142784073
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) rs1559834349
NM_004130.3(GYG1):c.159A>G (p.Thr53=) rs148619511
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004130.3(GYG1):c.319-12C>T rs114156848
NM_004130.3(GYG1):c.439A>G (p.Asn147Asp) rs140175164
NM_004130.3(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_004130.3(GYG1):c.552G>A (p.Pro184=) rs4938
NM_004130.3(GYG1):c.609G>A (p.Val203=) rs75445811
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_004130.3(GYG1):c.98G>A (p.Arg33Lys) rs146101365
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)
NM_004130.4(GYG1):c.201C>T (p.Gly67=) rs149479866
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu)
NM_004130.4(GYG1):c.631del (p.Val211fs)
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
NM_004130.4(GYG1):c.7+8C>T
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr)
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)

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