List of variants in gene PYGL reported as benign for glycogen storage disease VI

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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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.664G>A (p.Val222Ile)	rs946616	0.09756
NM_002863.5(PYGL):c.153C>T (p.Asp51=)	rs77316189	0.07133
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.2534A>G (p.Asn845Ser)	rs78558135	0.01732
NM_002863.5(PYGL):c.1621-6T>C	rs74539788	0.01217
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)	rs34313873	0.01205
NM_002863.5(PYGL):c.962G>A (p.Arg321His)	rs116465563	0.00878
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys)	rs35501326	0.00753
NM_002863.5(PYGL):c.1093-6C>A	rs147211684	0.00613
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)	rs35110875	0.00531
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)	rs150483902	0.00507
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)	rs143759519	0.00440
NM_002863.5(PYGL):c.424+6T>A	rs146741789	0.00346
NM_002863.5(PYGL):c.1683C>T (p.Ser561=)	rs145471351	0.00262
NM_002863.5(PYGL):c.1827+11T>A	rs189147741	0.00055
NM_002863.5(PYGL):c.691G>A (p.Val231Met)	rs148378112	0.00020
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)	rs17721570	0.00006
NM_002863.5(PYGL):c.-29A>C	rs538311514	0.00001
NM_002863.5(PYGL):c.*11del	rs3216001
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1]	rs561479231
NM_002863.5(PYGL):c.1093-16C>A
NM_002863.5(PYGL):c.1828-2del	rs11356035
NM_002863.5(PYGL):c.2178-11del	rs1555326336
NM_002863.5(PYGL):c.2312+12T>C
NM_002863.5(PYGL):c.2380-12T>C

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