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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)	rs114468011	0.00081
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)	rs759260599	0.00002
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro)	rs759336535	0.00001
NM_005609.4(PYGM):c.1044del (p.Glu349fs)	rs1592412131
NM_005609.4(PYGM):c.1A>G (p.Met1Val)	rs267606993

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