List of variants reported as not provided for Glycogen storage disease, type V by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)	rs11231865	0.03592
NM_005609.4(PYGM):c.645G>A (p.Lys215=)	rs116315896	0.00530
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	rs119103251	0.00027
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu)	rs1212604	0.00001
NM_005609.4(PYGM):c.1365C>T (p.Gly455=)	rs1056780	0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)	rs119103252	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)	rs11231866
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)	rs527236147
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	rs527236146
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys)	rs604595

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