ClinVar Miner

List of variants studied for Glycogen storage disease, type VI by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_002863.5(PYGL):c.298_307del (p.Met100fs)	rs1555328280

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