List of variants in gene PYGL reported as likely pathogenic for carbohydrate metabolism disease

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_002863.5(PYGL):c.1620+1G>A	rs113993981	0.00006
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)	rs150547274	0.00005
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)	rs760187622	0.00004
NM_002863.5(PYGL):c.772+1G>A	rs776545903	0.00003
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)	rs113993986	0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)	rs749922511	0.00001
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)	rs2050437440
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)	rs150483902
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)	rs767847163
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)	rs539898848
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
NM_002863.5(PYGL):c.2177+2T>C	rs1368182301
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)
NM_002863.5(PYGL):c.407dup (p.Leu137fs)
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
NM_002863.5(PYGL):c.715_716del (p.Val239fs)
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)

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