ClinVar Miner

List of variants reported as uncertain significance for alpha-methylacyl-CoA racemase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
NM_014324.6(AMACR):c.*2044C>A rs529140346 0.00135
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_014324.6(AMACR):c.*2088A>T rs182361997 0.00114
NM_014324.6(AMACR):c.*1942C>T rs543725887 0.00092
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014324.6(AMACR):c.*714T>C rs143877467 0.00072
NM_014324.6(AMACR):c.*1110G>T rs141969465 0.00053
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 0.00026
NM_014324.6(AMACR):c.*233T>C rs557294515 0.00023
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_014324.6(AMACR):c.*1032G>C rs550891172 0.00021
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_014324.6(AMACR):c.*1643T>C rs537161888 0.00012
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_014324.6(AMACR):c.976C>T (p.Arg326Cys) rs371343345 0.00010
NM_014324.6(AMACR):c.518G>A (p.Arg173His) rs201818706 0.00009
NM_014324.6(AMACR):c.662C>T (p.Thr221Met) rs573730345 0.00008
NM_014324.6(AMACR):c.*1353G>A rs886060525 0.00006
NM_014324.6(AMACR):c.*1560G>A rs886060524 0.00006
NM_014324.6(AMACR):c.247+9G>T rs1361255226 0.00006
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu) rs367814719 0.00006
NM_014324.6(AMACR):c.785A>G (p.Asp262Gly) rs141025802 0.00006
NM_014324.6(AMACR):c.*1931G>C rs563332854 0.00005
NM_014324.6(AMACR):c.1082G>A (p.Arg361His) rs374668256 0.00005
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00005
NM_014324.6(AMACR):c.*1862C>T rs1016774406 0.00004
NM_014324.6(AMACR):c.*540T>C rs146385238 0.00004
NM_014324.6(AMACR):c.100G>C (p.Val34Leu) rs377618695 0.00004
NM_014324.6(AMACR):c.514A>G (p.Thr172Ala) rs773084615 0.00004
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser) rs781463041 0.00004
NM_014324.6(AMACR):c.857del (p.Ile286fs) rs772921347 0.00004
NM_014324.6(AMACR):c.874G>A (p.Ala292Thr) rs1253952136 0.00004
NM_014324.6(AMACR):c.*1853G>A rs886060522 0.00003
NM_014324.6(AMACR):c.*760C>T rs991052989 0.00003
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 0.00003
NM_014324.6(AMACR):c.818A>G (p.Asp273Gly) rs1049451904 0.00003
NM_014324.6(AMACR):c.848G>C (p.Trp283Ser) rs944463227 0.00003
NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr) rs113361629 0.00003
NM_014324.6(AMACR):c.240C>G (p.Phe80Leu) rs1044437141 0.00002
NM_014324.6(AMACR):c.265C>T (p.Gln89Ter) rs149566702 0.00002
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg) rs377130820 0.00002
NM_014324.6(AMACR):c.635T>C (p.Met212Thr) rs145475619 0.00002
NM_014324.6(AMACR):c.865G>A (p.Gly289Ser) rs766952450 0.00002
NM_014324.6(AMACR):c.868A>G (p.Thr290Ala) rs759217337 0.00002
NM_014324.6(AMACR):c.86C>G (p.Ala29Gly) rs773277129 0.00002
NM_014324.5(AMACR):c.-40G>A rs553007226 0.00001
NM_014324.6(AMACR):c.*1181G>A rs886060526 0.00001
NM_014324.6(AMACR):c.*1367T>C rs752473789 0.00001
NM_014324.6(AMACR):c.*1622T>C rs886060523 0.00001
NM_014324.6(AMACR):c.*1875C>T rs1006230629 0.00001
NM_014324.6(AMACR):c.1045C>G (p.His349Asp) rs779722935 0.00001
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) rs761488582 0.00001
NM_014324.6(AMACR):c.106C>T (p.Arg36Trp) rs769044213 0.00001
NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys) rs774406448 0.00001
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly) rs200270822 0.00001
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) rs1484335138 0.00001
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) rs1561047456 0.00001
NM_014324.6(AMACR):c.235C>G (p.Pro79Ala) rs938653823 0.00001
NM_014324.6(AMACR):c.254T>C (p.Met85Thr) rs936948409 0.00001
NM_014324.6(AMACR):c.317G>A (p.Arg106Lys) rs752862912 0.00001
NM_014324.6(AMACR):c.319C>A (p.Leu107Met) rs1376599461 0.00001
NM_014324.6(AMACR):c.364C>T (p.His122Tyr) rs1279600909 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.367G>A (p.Asp123Asn) rs771615304 0.00001
NM_014324.6(AMACR):c.387G>C (p.Leu129Phe) rs917667584 0.00001
NM_014324.6(AMACR):c.407T>C (p.Ile136Thr) rs1753921208 0.00001
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp) rs777768049 0.00001
NM_014324.6(AMACR):c.423G>C (p.Glu141Asp) rs748131178 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.512G>A (p.Arg171His) rs770694101 0.00001
NM_014324.6(AMACR):c.553-3A>G rs775486138 0.00001
NM_014324.6(AMACR):c.670A>G (p.Arg224Gly) rs1348790589 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.749T>G (p.Leu250Arg) rs1464991426 0.00001
NM_014324.6(AMACR):c.806A>T (p.Lys269Met) rs142887272 0.00001
NM_014324.6(AMACR):c.826G>C (p.Ala276Pro) rs200687238 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 0.00001
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) rs774180397 0.00001
NM_014324.6(AMACR):c.934C>T (p.Arg312Trp) rs201507169 0.00001
NM_014324.6(AMACR):c.965A>T (p.Asp322Val) rs575263204 0.00001
NM_014324.6(AMACR):c.994T>G (p.Leu332Val) rs1265714665 0.00001
NC_000005.9:g.(?_33944753)_(33989627_?)dup
NC_000005.9:g.(?_33944753)_(35089722_?)dup
NC_000005.9:g.(?_33986409)_(33989627_?)dup
NC_000005.9:g.(?_34007858)_(34008124_?)del
NC_000005.9:g.(?_34007858)_(34935958_?)dup
NM_014324.6(AMACR):c.*1178G>A rs886060527
NM_014324.6(AMACR):c.*1764A>C rs1383745386
NM_014324.6(AMACR):c.*1985G>A rs971469605
NM_014324.6(AMACR):c.*2093A>G rs886060521
NM_014324.6(AMACR):c.*439A>G rs533094975
NM_014324.6(AMACR):c.*573dup rs886060528
NM_014324.6(AMACR):c.*805C>A rs367582757
NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser)
NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)
NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)
NM_014324.6(AMACR):c.1040dup (p.Glu348fs) rs1255254263
NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)
NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg) rs773780297
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014324.6(AMACR):c.1108G>C (p.Asp370His)
NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly) rs2112032028
NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)
NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)
NM_014324.6(AMACR):c.116C>T (p.Ser39Phe) rs2112078262
NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)
NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg) rs1554006390
NM_014324.6(AMACR):c.137T>G (p.Leu46Trp) rs1396372839
NM_014324.6(AMACR):c.139G>T (p.Gly47Cys) rs2112078140
NM_014324.6(AMACR):c.13G>A (p.Gly5Ser) rs1192420459
NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)
NM_014324.6(AMACR):c.149A>G (p.Lys50Arg)
NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)
NM_014324.6(AMACR):c.160G>C (p.Val54Leu)
NM_014324.6(AMACR):c.179C>T (p.Pro60Leu)
NM_014324.6(AMACR):c.184G>T (p.Gly62Ter) rs891858540
NM_014324.6(AMACR):c.187G>A (p.Ala63Thr)
NM_014324.6(AMACR):c.193G>A (p.Val65Met) rs1306513083
NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)
NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)
NM_014324.6(AMACR):c.203G>T (p.Arg68Leu) rs2112077728
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) rs915168123
NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)
NM_014324.6(AMACR):c.223G>C (p.Val75Leu)
NM_014324.6(AMACR):c.253A>G (p.Met85Val) rs746627394
NM_014324.6(AMACR):c.255G>A (p.Met85Ile)
NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)
NM_014324.6(AMACR):c.275del (p.Pro92fs)
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.283C>G (p.Leu95Val) rs2112072698
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp) rs757072374
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro) rs139273474
NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)
NM_014324.6(AMACR):c.31C>G (p.Leu11Val) rs1032174171
NM_014324.6(AMACR):c.323G>C (p.Ser108Thr)
NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)
NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)
NM_014324.6(AMACR):c.352C>T (p.Arg118Trp)
NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe)
NM_014324.6(AMACR):c.370A>G (p.Ile124Val) rs1477299437
NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)
NM_014324.6(AMACR):c.38G>T (p.Gly13Val)
NM_014324.6(AMACR):c.391+3A>G rs1753952875
NM_014324.6(AMACR):c.391+4T>A
NM_014324.6(AMACR):c.394G>A (p.Val132Ile)
NM_014324.6(AMACR):c.419G>A (p.Gly140Asp) rs2112070079
NM_014324.6(AMACR):c.421G>A (p.Glu141Lys) rs2112070061
NM_014324.6(AMACR):c.422A>C (p.Glu141Ala) rs2112070052
NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)
NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)
NM_014324.6(AMACR):c.43G>C (p.Ala15Pro)
NM_014324.6(AMACR):c.43del (p.Ala15fs)
NM_014324.6(AMACR):c.476T>C (p.Met159Thr)
NM_014324.6(AMACR):c.496A>G (p.Met166Val)
NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)
NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)
NM_014324.6(AMACR):c.517C>T (p.Arg173Cys)
NM_014324.6(AMACR):c.538A>G (p.Ile180Val)
NM_014324.6(AMACR):c.544G>A (p.Ala182Thr) rs2112069628
NM_014324.6(AMACR):c.547A>G (p.Asn183Asp) rs2112069615
NM_014324.6(AMACR):c.552+3A>T
NM_014324.6(AMACR):c.552+4A>T
NM_014324.6(AMACR):c.553-1G>A
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.563C>G (p.Thr188Arg)
NM_014324.6(AMACR):c.566C>T (p.Ala189Val)
NM_014324.6(AMACR):c.572T>A (p.Leu191Ter) rs2112054992
NM_014324.6(AMACR):c.580T>C (p.Phe194Leu) rs2112054973
NM_014324.6(AMACR):c.602T>G (p.Leu201Trp) rs2287939
NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)
NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)
NM_014324.6(AMACR):c.61G>T (p.Ala21Ser) rs2112078509
NM_014324.6(AMACR):c.623G>A (p.Arg208Gln) rs975712828
NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)
NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)
NM_014324.6(AMACR):c.698T>C (p.Val233Ala) rs76184600
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu) rs778295213
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
NM_014324.6(AMACR):c.728T>G (p.Leu243Arg) rs2112054267
NM_014324.6(AMACR):c.737A>G (p.Lys246Arg) rs2112054224
NM_014324.6(AMACR):c.739+3A>C
NM_014324.6(AMACR):c.740-2del rs2112033441
NM_014324.6(AMACR):c.740-3C>T
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.740-8_740-6delinsGGA rs2112033482
NM_014324.6(AMACR):c.755C>T (p.Ser252Phe)
NM_014324.6(AMACR):c.774G>C (p.Gln258His) rs1753409460
NM_014324.6(AMACR):c.775A>G (p.Met259Val) rs2112033298
NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)
NM_014324.6(AMACR):c.781A>T (p.Met261Leu) rs878852990
NM_014324.6(AMACR):c.793C>A (p.Pro265Thr) rs2112033195
NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)
NM_014324.6(AMACR):c.803A>T (p.Lys268Met) rs151086469
NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)
NM_014324.6(AMACR):c.820G>A (p.Val274Ile) rs769669689
NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)
NM_014324.6(AMACR):c.849G>A (p.Trp283Ter) rs2112032937
NM_014324.6(AMACR):c.856A>G (p.Ile286Val)
NM_014324.6(AMACR):c.884C>T (p.Thr295Ile) rs2112032792
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.89G>A (p.Arg30His) rs1370754918
NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu) rs2112032750
NM_014324.6(AMACR):c.913C>T (p.His305Tyr)
NM_014324.6(AMACR):c.914A>T (p.His305Leu)
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529
NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)
NM_014324.6(AMACR):c.941C>T (p.Ser314Leu) rs747129541
NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)
NM_014324.6(AMACR):c.94G>A (p.Val32Ile) rs762048386
NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)
NM_014324.6(AMACR):c.967G>A (p.Val323Met)
NM_014324.6(AMACR):c.967G>T (p.Val323Leu)
NM_014324.6(AMACR):c.976dup (p.Arg326fs) rs1266524888
NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)

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