ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_004130.4(GYG1):c.143+3G>C rs370652040 0.00016
NM_004130.4(GYG1):c.7+1G>A rs949456055 0.00002
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) rs727502869 0.00001
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_004130.4(GYG1):c.7+2T>C
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter) rs727502870
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln) rs1714679440

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