ClinVar Miner

List of variants studied for inborn disorder of amino acid and other organic acid metabolism by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000275.3(OCA2):c.1182+1G>A rs371963034 0.00014
NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val) rs146175246 0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr) rs142988897 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) rs137852636 0.00004
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu) rs530738094 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993 0.00003
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp) rs200125400 0.00003
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg) rs200290813 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) rs1227800781 0.00001
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu) rs147442301 0.00001
NM_000018.4(ACADVL):c.878+1G>C rs757946752 0.00001
NM_000187.4(HGD):c.157C>T (p.Arg53Trp) rs759435977 0.00001
NM_000187.4(HGD):c.587C>T (p.Thr196Ile) rs781491692 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236 0.00001
NM_000277.3(PAH):c.532G>A (p.Glu178Lys) rs1448720360 0.00001
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.755G>A (p.Arg252Gln) rs62644503 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.940C>A (p.Pro314Thr) rs199475650 0.00001
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly) rs61753187 0.00001
NM_000429.3(MAT1A):c.875G>A (p.Arg292His) rs781774786 0.00001
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) rs143575106 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu) rs766097440 0.00001
NM_005518.4(HMGCS2):c.1187+1G>C rs764706394 0.00001
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_000016.6(ACADM):c.157C>G (p.Arg53Gly)
NM_000045.4(ARG1):c.330_347del (p.His111_Pro116del)
NM_000045.4(ARG1):c.833T>G (p.Val278Gly)
NM_000071.3(CBS):c.556dup (p.Ala186fs)
NM_000071.3(CBS):c.938C>A (p.Thr313Lys)
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
NM_000108.5(DLD):c.1310G>A (p.Gly437Asp)
NM_000156.6(GAMT):c.491dup (p.Val165fs) rs749390953
NM_000161.3(GCH1):c.11del (p.Gly4fs)
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.562G>A (p.Ala188Thr) rs751279776
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.5(GCK):c.800dup (p.Asp267fs)
NM_000187.4(HGD):c.469+1G>C rs1260545974
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.4(PDX1):c.433G>A (p.Glu145Lys)
NM_000275.3(OCA2):c.1054A>G (p.Arg352Gly)
NM_000275.3(OCA2):c.1426A>G (p.Asn476Asp)
NM_000275.3(OCA2):c.1637-2A>G rs1595717218
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2195C>G (p.Ser732Ter)
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.2300C>T (p.Pro767Leu)
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr) rs62508628
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1197A>T (p.Val399=) rs199475584
NM_000277.3(PAH):c.1247del (p.Pro416fs)
NM_000277.3(PAH):c.127G>T (p.Glu43Ter) rs1555209575
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp) rs199475659
NM_000277.3(PAH):c.1315+6T>A rs62508650
NM_000277.3(PAH):c.168+2T>C rs1025860114
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.224A>G (p.Asp75Gly) rs1565866547
NM_000277.3(PAH):c.257G>C (p.Arg86Pro)
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.442-1G>A rs62514907
NM_000277.3(PAH):c.466G>C (p.Ala156Pro) rs199475686
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.505C>A (p.Arg169Ser) rs281865440
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>A (p.His170Gln) rs199475652
NM_000277.3(PAH):c.563G>A (p.Gly188Asp) rs199475689
NM_000277.3(PAH):c.578C>T (p.Thr193Ile)
NM_000277.3(PAH):c.694_696delinsTAA (p.Gln232Ter)
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.739G>C (p.Gly247Arg) rs62508731
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.764T>C (p.Leu255Ser) rs62642930
NM_000277.3(PAH):c.775G>A (p.Ala259Thr) rs62642932
NM_000277.3(PAH):c.800A>G (p.Gln267Arg) rs778154939
NM_000277.3(PAH):c.842+2T>A rs62514955
NM_000277.3(PAH):c.907del (p.Ser303fs) rs62642920
NM_000277.3(PAH):c.992T>C (p.Phe331Ser) rs199475614
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000291.4(PGK1):c.182T>C (p.Met61Thr)
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)
NM_000298.6(PKLR):c.958G>C (p.Val320Leu)
NM_000298.6(PKLR):c.965+1G>A
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
NM_000372.5(TYR):c.1200G>A (p.Trp400Ter)
NM_000372.5(TYR):c.216del (p.Val74fs) rs1565386406
NM_000372.5(TYR):c.229C>G (p.Arg77Gly)
NM_000372.5(TYR):c.425A>T (p.Lys142Met)
NM_000372.5(TYR):c.635G>C (p.Arg212Thr)
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000429.3(MAT1A):c.188G>T (p.Gly63Val)
NM_000429.3(MAT1A):c.257C>T (p.Thr86Ile)
NM_000429.3(MAT1A):c.315C>A (p.Asn105Lys)
NM_000429.3(MAT1A):c.397G>A (p.Gly133Arg)
NM_000458.4(HNF1B):c.27_29del (p.Gln10del)
NM_000458.4(HNF1B):c.345-2A>G
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) rs72552300
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs) rs1593060890
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln) rs1057520779
NM_000550.3(TYRP1):c.985G>T (p.Glu329Ter)
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) rs765926471
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)
NM_001024845.3(SLC6A9):c.743C>T (p.Thr248Met)
NM_001352514.2(HLCS):c.1483G>A (p.Glu495Lys)
NM_001715.3(BLK):c.1013T>C (p.Ile338Thr)
NM_001715.3(BLK):c.458G>A (p.Ser153Asn)
NM_001715.3(BLK):c.530A>G (p.Tyr177Cys)
NM_001807.6(CEL):c.959C>T (p.Pro320Leu)
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001876.4(CPT1A):c.1593_1594del (p.Glu531fs)
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn) rs1417413074
NM_001876.4(CPT1A):c.454-2A>G
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_004453.4(ETFDH):c.929A>G (p.Tyr310Cys) rs796051958
NM_004817.4(TJP2):c.1649AAG[1] (p.Glu551del)
NM_004817.4(TJP2):c.953-2A>G
NM_005518.4(HMGCS2):c.1502G>A (p.Arg501Gln)
NM_005518.4(HMGCS2):c.719A>T (p.Asp240Val)
NM_005629.4(SLC6A8):c.1072_1080del (p.Val358_Phe360del)
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu) rs2148363661
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter)
NM_016180.5(SLC45A2):c.1318A>G (p.Thr440Ala)
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu) rs3733808
NM_016180.5(SLC45A2):c.478G>C (p.Asp160His) rs760780597
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.452del (p.Pro151fs)
NM_032383.5(HPS3):c.1151A>C (p.His384Pro)
NM_054012.4(ASS1):c.420+5G>A
NM_054012.4(ASS1):c.552C>A (p.Asn184Lys)
NM_175914.5(HNF4A):c.583-1G>A
NM_181507.2(HPS5):c.927_928del (p.Gly310fs)

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