List of variants reported as benign for Alpha-methylacyl-CoA racemase deficiency by Invitae

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)	rs2278008	0.75062
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)	rs2287939	0.73966
NM_014324.6(AMACR):c.25G>A (p.Val9Met)	rs3195676	0.42007
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)	rs10941112	0.38660
NM_014324.6(AMACR):c.717G>T (p.Gln239His)	rs34677	0.11264
NM_014324.6(AMACR):c.247+20G>A	rs9282595	0.09385
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln)	rs16892150	0.03193
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)	rs9282594	0.02606
NM_014324.6(AMACR):c.782T>C (p.Met261Thr)	rs3195678	0.01320
NM_014324.6(AMACR):c.837G>A (p.Thr279=)	rs35655488	0.00378
NM_014324.6(AMACR):c.392-16G>C	rs756124583	0.00036
NM_014324.6(AMACR):c.438G>A (p.Pro146=)	rs140523570	0.00013
NM_014324.6(AMACR):c.248-18C>T	rs534775074	0.00002
NM_014324.6(AMACR):c.391+16del

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