List of variants reported as likely benign for alpha-methylacyl-CoA racemase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 133

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HGVS	dbSNP	gnomAD frequency
NM_014324.6(AMACR):c.247+8C>G	rs779779299	0.00032
NM_014324.6(AMACR):c.459T>C (p.Phe153=)	rs144785688	0.00015
NM_014324.6(AMACR):c.391+12A>T	rs200119719	0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)	rs181341030	0.00014
NM_014324.6(AMACR):c.975C>T (p.Pro325=)	rs766116509	0.00007
NM_014324.6(AMACR):c.247+9G>T	rs1361255226	0.00006
NM_014324.6(AMACR):c.248-4T>C	rs374882967	0.00006
NM_014324.6(AMACR):c.429G>A (p.Pro143=)	rs368427062	0.00006
NM_014324.6(AMACR):c.739+16G>A	rs376704656	0.00006
NM_014324.6(AMACR):c.739+18G>A	rs369971392	0.00006
NM_014324.6(AMACR):c.90T>G (p.Arg30=)	rs769780647	0.00006
NM_014324.6(AMACR):c.204T>A (p.Arg68=)	rs1057472198	0.00005
NM_014324.6(AMACR):c.1011C>T (p.Ile337=)	rs779290495	0.00004
NM_014324.6(AMACR):c.1083C>T (p.Arg361=)	rs561675407	0.00004
NM_014324.6(AMACR):c.561A>T (p.Gly187=)	rs143478366	0.00004
NM_014324.6(AMACR):c.966C>T (p.Asp322=)	rs906797872	0.00004
NM_014324.6(AMACR):c.183G>A (p.Arg61=)	rs922245020	0.00002
NM_014324.6(AMACR):c.681T>C (p.Asp227=)	rs778140879	0.00002
NM_014324.6(AMACR):c.1017T>C (p.Ser339=)	rs1160011194	0.00001
NM_014324.6(AMACR):c.1032T>G (p.Pro344=)	rs1189329151	0.00001
NM_014324.6(AMACR):c.247+13C>G	rs530359458	0.00001
NM_014324.6(AMACR):c.248-7T>C	rs369606862	0.00001
NM_014324.6(AMACR):c.345C>T (p.Ser115=)	rs774513423	0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=)	rs775128044	0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=)	rs144271819	0.00001
NM_014324.6(AMACR):c.553-13T>C	rs1251869278	0.00001
NM_014324.6(AMACR):c.714C>G (p.Pro238=)	rs200824585	0.00001
NM_014324.6(AMACR):c.739+15C>T	rs537833252	0.00001
NM_014324.6(AMACR):c.739+7G>T	rs1171535211	0.00001
NM_014324.6(AMACR):c.740-17A>T	rs771674608	0.00001
NM_014324.6(AMACR):c.864C>T (p.Asp288=)	rs752187529	0.00001
NM_014324.6(AMACR):c.942G>A (p.Ser314=)	rs139973015	0.00001
NM_014324.6(AMACR):c.1002C>T (p.Thr334=)
NM_014324.6(AMACR):c.1026G>A (p.Arg342=)
NM_014324.6(AMACR):c.1059A>T (p.Ile353=)
NM_014324.6(AMACR):c.108G>T (p.Arg36=)
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr)	rs199734111
NM_014324.6(AMACR):c.1119T>C (p.Ile373=)
NM_014324.6(AMACR):c.1140T>C (p.Ala380=)
NM_014324.6(AMACR):c.126C>T (p.Asp42=)
NM_014324.6(AMACR):c.162G>C (p.Val54=)
NM_014324.6(AMACR):c.168C>T (p.Asp56=)
NM_014324.6(AMACR):c.177G>A (p.Gln59=)	rs1754041698
NM_014324.6(AMACR):c.180G>C (p.Pro60=)
NM_014324.6(AMACR):c.219G>C (p.Ser73=)
NM_014324.6(AMACR):c.21G>A (p.Ser7=)
NM_014324.6(AMACR):c.21G>C (p.Ser7=)
NM_014324.6(AMACR):c.222T>C (p.Asp74=)
NM_014324.6(AMACR):c.226C>T (p.Leu76=)
NM_014324.6(AMACR):c.228G>A (p.Leu76=)
NM_014324.6(AMACR):c.243C>T (p.Arg81=)	rs780748531
NM_014324.6(AMACR):c.247+11G>A
NM_014324.6(AMACR):c.247+12C>A
NM_014324.6(AMACR):c.247+14C>G	rs765066873
NM_014324.6(AMACR):c.247+15C>G
NM_014324.6(AMACR):c.247+16G>C
NM_014324.6(AMACR):c.247+17C>G
NM_014324.6(AMACR):c.247+18G>C
NM_014324.6(AMACR):c.247+7C>T	rs1280216165
NM_014324.6(AMACR):c.247+8C>T
NM_014324.6(AMACR):c.248-16T>A
NM_014324.6(AMACR):c.248-17G>A	rs1455994194
NM_014324.6(AMACR):c.248-18C>G
NM_014324.6(AMACR):c.248-22_248-20del
NM_014324.6(AMACR):c.252C>A (p.Val84=)
NM_014324.6(AMACR):c.252C>T (p.Val84=)	rs941616070
NM_014324.6(AMACR):c.264C>A (p.Leu88=)
NM_014324.6(AMACR):c.264C>G (p.Leu88=)
NM_014324.6(AMACR):c.27G>A (p.Val9=)	rs780679627
NM_014324.6(AMACR):c.285G>A (p.Leu95=)	rs2112072685
NM_014324.6(AMACR):c.289C>A (p.Arg97=)	rs757072374
NM_014324.6(AMACR):c.303G>A (p.Arg101=)
NM_014324.6(AMACR):c.30G>A (p.Glu10=)
NM_014324.6(AMACR):c.33G>A (p.Leu11=)	rs140821725
NM_014324.6(AMACR):c.33G>C (p.Leu11=)	rs140821725
NM_014324.6(AMACR):c.36C>T (p.Ser12=)
NM_014324.6(AMACR):c.392-15T>C
NM_014324.6(AMACR):c.392-20A>G
NM_014324.6(AMACR):c.392-34_392-17del	rs2112070189
NM_014324.6(AMACR):c.39C>G (p.Gly13=)
NM_014324.6(AMACR):c.429G>C (p.Pro143=)
NM_014324.6(AMACR):c.42G>A (p.Leu14=)
NM_014324.6(AMACR):c.456C>T (p.Asp152=)
NM_014324.6(AMACR):c.462T>C (p.Ala154=)
NM_014324.6(AMACR):c.471C>T (p.Gly157=)
NM_014324.6(AMACR):c.516A>G (p.Thr172=)
NM_014324.6(AMACR):c.519C>A (p.Arg173=)	rs768526839
NM_014324.6(AMACR):c.519C>T (p.Arg173=)
NM_014324.6(AMACR):c.552+10A>C
NM_014324.6(AMACR):c.552+11A>G
NM_014324.6(AMACR):c.552+12T>C
NM_014324.6(AMACR):c.552+14G>A
NM_014324.6(AMACR):c.552+16G>A
NM_014324.6(AMACR):c.553-14C>T	rs767051900
NM_014324.6(AMACR):c.553-18T>C	rs776351043
NM_014324.6(AMACR):c.553-5C>A	rs1753722683
NM_014324.6(AMACR):c.553-5C>T
NM_014324.6(AMACR):c.564A>G (p.Thr188=)
NM_014324.6(AMACR):c.567A>G (p.Ala189=)
NM_014324.6(AMACR):c.582T>C (p.Phe194=)
NM_014324.6(AMACR):c.585G>A (p.Leu195=)
NM_014324.6(AMACR):c.594T>G (p.Thr198=)	rs2112054956
NM_014324.6(AMACR):c.602_603inv (p.Leu201Ser)
NM_014324.6(AMACR):c.627A>T (p.Gly209=)
NM_014324.6(AMACR):c.633C>T (p.Asn211=)
NM_014324.6(AMACR):c.637T>C (p.Leu213=)
NM_014324.6(AMACR):c.657C>T (p.Phe219=)
NM_014324.6(AMACR):c.663G>A (p.Thr221=)
NM_014324.6(AMACR):c.669C>T (p.Tyr223=)
NM_014324.6(AMACR):c.684G>A (p.Gly228=)
NM_014324.6(AMACR):c.723C>T (p.Tyr241=)	rs1412349912
NM_014324.6(AMACR):c.727C>T (p.Leu243=)
NM_014324.6(AMACR):c.72G>T (p.Leu24=)
NM_014324.6(AMACR):c.732G>A (p.Leu244=)
NM_014324.6(AMACR):c.732G>C (p.Leu244=)
NM_014324.6(AMACR):c.739+13C>T
NM_014324.6(AMACR):c.739+17C>T
NM_014324.6(AMACR):c.739+20C>T
NM_014324.6(AMACR):c.740-11T>C
NM_014324.6(AMACR):c.740-13_740-12insTGG
NM_014324.6(AMACR):c.740-16T>C	rs745648289
NM_014324.6(AMACR):c.740-5del	rs753199004
NM_014324.6(AMACR):c.740-8T>A
NM_014324.6(AMACR):c.765T>C (p.Leu255=)
NM_014324.6(AMACR):c.774G>A (p.Gln258=)
NM_014324.6(AMACR):c.789T>C (p.Asp263=)	rs896470099
NM_014324.6(AMACR):c.843A>C (p.Ala281=)
NM_014324.6(AMACR):c.843A>G (p.Ala281=)
NM_014324.6(AMACR):c.879T>C (p.Cys293=)
NM_014324.6(AMACR):c.888G>A (p.Pro296=)
NM_014324.6(AMACR):c.939C>T (p.Gly313=)
NM_014324.6(AMACR):c.978C>G (p.Arg326=)	rs764961991
NM_014324.6(AMACR):c.984A>G (p.Ala328=)

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