ClinVar Miner

List of variants studied for amino acid metabolism disease by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) rs398123287 0.00001
NM_000317.3(PTS):c.78G>T (p.Leu26Phe) rs1317230624 0.00001
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NC_000023.11:g.153694345del rs1603217468
NM_000273.3(GPR143):c.360+2T>C rs2146700764
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) rs1578280614
NM_001034853.2(RPGR):c.919del (p.Thr307fs) rs1601951595
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_003042.4(SLC6A1):c.1528-1G>C rs1574924801
NM_003042.4(SLC6A1):c.801del (p.Ile268fs) rs1574906665
NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs) rs1573881742
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro) rs1658063448
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_005629.4(SLC6A8):c.1330G>T (p.Glu444Ter) rs2091474617
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_015629.4(PRPF31):c.1074-1G>C
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_207346.3(TSEN54):c.953del (p.Pro318fs)

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