List of variants in gene GAA reported as pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	rs121907943	0.00063
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)	rs142967546	0.00033
NM_000152.5(GAA):c.525del (p.Glu176fs)	rs386834235	0.00019
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00006
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	rs28940868	0.00004
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)	rs772883420	0.00002
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)	rs369531647
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)	rs759518659
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000152.5(GAA):c.546+2_546+5del	rs1181354869
NM_000152.5(GAA):c.569G>A (p.Arg190His)	rs528367092
NM_000152.5(GAA):c.742del (p.Leu248fs)

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