List of variants in gene PYGM reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00074
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00009
NM_005609.4(PYGM):c.425-26A>G	rs764313717	0.00009
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)	rs780656375	0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	rs1057517001	0.00003
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)	rs757681143	0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)	rs119103253	0.00001
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1797del (p.Phe599fs)	rs769960481
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)	rs770037766

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