ClinVar Miner

List of variants reported as likely benign for alpha-methylacyl-CoA racemase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_014324.6(AMACR):c.*963C>T rs6898962 0.04660
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_014324.6(AMACR):c.*1070C>T rs16892064 0.03353
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_014324.6(AMACR):c.*1804G>T rs116206502 0.00859
NM_014324.6(AMACR):c.*976G>A rs150664086 0.00754
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_014324.6(AMACR):c.*1945A>G rs79880451 0.00225
NM_014324.6(AMACR):c.*1203A>G rs190329271 0.00108
NM_014324.6(AMACR):c.*1928T>C rs531992128 0.00079
NM_014324.6(AMACR):c.*1366A>G rs530507195 0.00032
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.438G>A (p.Pro146=) rs140523570 0.00013
NM_014324.6(AMACR):c.*449T>C rs550502356 0.00007
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.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.177G>A (p.Gln59=) rs1754041698
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+7C>T rs1280216165
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.252C>A (p.Val84=)
NM_014324.6(AMACR):c.252C>T (p.Val84=) rs941616070
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.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.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.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.564A>G (p.Thr188=)
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.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.739+17C>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.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.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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