List of variants in gene PYGM reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00009
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)	rs144081869	0.00006
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter)	rs119103260
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.632del (p.Ser211fs)	rs759015176

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