ClinVar Miner

List of variants in gene PYGM studied for See cases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)	rs114073621	0.00002
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001

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