ClinVar Miner

List of variants reported as uncertain significance 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: 105
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HGVS dbSNP gnomAD frequency
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_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000360.4(TH):c.91-868C>T rs148235227 0.00012
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
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_033100.4(CDHR1):c.1220G>A (p.Arg407Gln) rs201004571 0.00006
NM_000360.4(TH):c.110G>A (p.Arg37His) rs368122376 0.00005
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
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_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu) rs376430455 0.00003
NM_000329.3(RPE65):c.1243+10T>C rs548537552 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_178857.6(RP1L1):c.5929G>A (p.Val1977Ile) rs534151176 0.00002
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_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser) rs775323445 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_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_178857.6(RP1L1):c.2720C>T (p.Ala907Val) rs758561870 0.00001
NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr) rs775897747 0.00001
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
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_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_000360.4(TH):c.818A>C (p.Glu273Ala) rs1846110049
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_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.457G>A (p.Ala153Thr) rs2067875526
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly) rs1554163965
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu) rs747228733
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.5047G>A (p.Asp1683Asn) rs1023188648
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs) rs1555339028
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_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_006859.4(LIAS):c.393+7C>G rs372423537
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_016247.4(IMPG2):c.586A>G (p.Thr196Ala) rs1463411745
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del) rs760555697
NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu) rs534151176
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr) rs778754350

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