List of variants in gene PYGM reported by Fulgent Genetics, Fulgent Genetics

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)	rs113806080	0.00446
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00181
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)	rs61736659	0.00065
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)	rs148839812	0.00046
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)	rs145881639	0.00039
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)	rs142008108	0.00034
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)	rs119103251	0.00027
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)	rs200688234	0.00016
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)	rs143177272	0.00011
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)	rs139230055	0.00010
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)	rs749358752	0.00007
NM_005609.4(PYGM):c.1768+1G>A	rs771427957	0.00007
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)	rs750032282	0.00006
NM_005609.4(PYGM):c.193G>A (p.Val65Met)	rs149658961	0.00005
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	rs1057517001	0.00003
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)	rs769805782	0.00002
NM_005609.4(PYGM):c.1768+2T>G	rs747513238	0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)	rs776680924	0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)	rs753533515	0.00002
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)	rs119103255	0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	rs119103259	0.00001
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)	rs370247862	0.00001
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)	rs750700202
NM_005609.4(PYGM):c.2177+1G>A	rs751875471
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)	rs119103258
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)	rs1565538121
NM_005609.4(PYGM):c.661-5C>G	rs75633423

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