List of variants studied for glycogen storage disease VI by Genome-Nilou Lab

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.2016C>T (p.Thr672=)	rs15669	0.21064
NM_002863.5(PYGL):c.*7G>C	rs1042266	0.17763
NM_002863.5(PYGL):c.1020C>T (p.Asp340=)	rs2075643	0.16448
NM_002863.5(PYGL):c.93T>C (p.Ser31=)	rs17123244	0.04608
NM_002863.5(PYGL):c.772+16G>T	rs17123173	0.02096
NM_002863.5(PYGL):c.*11del	rs3216001
NM_002863.5(PYGL):c.1828-2del	rs11356035

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