ClinVar Miner

List of variants studied for amino acid metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00007
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) rs200426430 0.00007
NM_018706.7(DHTKD1):c.718-5A>G rs374421488 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln) rs201004571 0.00006
NM_000159.4(GCDH):c.335-14C>T rs781650833 0.00005
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000283.4(PDE6B):c.559G>A (p.Val187Met) rs138615156 0.00004
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val) rs149771221 0.00004
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639 0.00003
NM_000016.6(ACADM):c.244dup (p.Trp82fs) rs786204566 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu) rs774934088 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_178857.6(RP1L1):c.5929G>A (p.Val1977Ile) rs534151176 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_000071.3(CBS):c.828+1G>A rs763290176 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) rs1737315492 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 0.00001
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser) rs1309112630 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr) rs370922435 0.00001
NM_003124.5(SPR):c.610G>C (p.Asp204His) rs1430511579 0.00001
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr) rs1394450537 0.00001
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys) rs967101315 0.00001
NM_004698.4(PRPF3):c.508-13C>G rs373033761 0.00001
NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr) rs2059240399 0.00001
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg) rs767984565 0.00001
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys) rs781743972 0.00001
NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser) rs143621397 0.00001
NM_054012.4(ASS1):c.174+1G>T rs748264993 0.00001
NM_144596.4(TTC8):c.915del (p.Met305fs) rs1431207606 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val) rs758561870 0.00001
NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr) rs775897747 0.00001
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del) rs387906308
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter) rs761493155
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) rs192349677
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) rs910012804
NM_000159.4(GCDH):c.-47G>A rs952257144
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs) rs1817555980
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000274.4(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000277.3(PAH):c.912+2T>C rs281865449
NM_000283.4(PDE6B):c.2353-7_2353-3del rs1737974000
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys) rs368094720
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly) rs200287184
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
NM_000440.3(PDE6A):c.2027+2T>G rs1259637349
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.845A>G (p.Gln282Arg) rs2068530314
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr) rs1197317905
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) rs1939392843
NM_000709.4(BCKDHA):c.1168-1G>A rs2039405116
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_001012720.2(RGR):c.679del (p.Tyr227fs) rs1842908009
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001034853.2(RPGR):c.1506+4del rs2067276668
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2340_2341del (p.Arg780fs) rs2067185505
NM_001034853.2(RPGR):c.3457T>A (p.Ter1153Lys) rs2067111489
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr) rs2067875526
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) rs1554163965
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu) rs747228733
NM_001271.4(CHD2):c.3734+20A>G rs765676490
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr) rs2054514484
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly) rs769808679
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu) rs1960999459
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His) rs1940955829
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs) rs1555339028
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser) rs1279443212
NM_001918.5(DBT):c.391G>A (p.Val131Met) rs1663510723
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) rs2097834101
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) rs2097831271
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_003124.5(SPR):c.308C>G (p.Ser103Cys) rs748740519
NM_003124.5(SPR):c.497G>A (p.Gly166Asp) rs1404932614
NM_004170.6(SLC1A1):c.875+8A>G rs12682807
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val) rs1851035772
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp) rs1851499526
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile) rs1656552502
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys) rs1841666156
NM_005629.4(SLC6A8):c.1767+9C>G rs782076464
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala) rs146483990
NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu) rs1821114318
NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) rs762457246
NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter) rs200942439
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006859.4(LIAS):c.393+7C>G rs372423537
NM_006859.4(LIAS):c.643del (p.Asp215fs) rs1744806313
NM_006915.3(RP2):c.409_411del (p.Ile137del) rs1924904597
NM_012469.4(PRPF6):c.1186+13C>G rs376567998
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala) rs2059216772
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val) rs1471564053
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly) rs995570532
NM_014270.5(SLC7A9):c.450_452del (p.Val151del) rs1294838201
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter) rs753747821
NM_016247.4(IMPG2):c.1240-2A>G rs1706475153
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala) rs1463411745
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del) rs760555697
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.616del (p.His206fs) rs1183979115
NM_144631.6(ZNF513):c.279_283del (p.Ala94fs) rs1683490120
NM_152419.3(HGSNAT):c.272del (p.Pro91fs) rs1803166641
NM_153006.3(NAGS):c.1096+2T>G rs2049097522
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_177965.4(CFAP418):c.363del (p.Asn121fs) rs1811856716
NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu) rs534151176
NM_201548.5(CERKL):c.677+3A>G rs1553515435
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr) rs778754350

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