ClinVar Miner

List of variants reported as uncertain significance for amino acid metabolism disease by Baylor Genetics

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 369
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys) rs6804746 0.00159
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_001010898.4(SLC6A17):c.286+10A>G rs187996451 0.00119
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) rs61736440 0.00081
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala) rs142821762 0.00051
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala) rs142409945 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met) rs141487939 0.00032
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312 0.00032
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) rs150710061 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala) rs145391132 0.00031
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val) rs77305684 0.00027
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys) rs112817798 0.00024
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met) rs143189177 0.00022
NM_002497.4(NEK2):c.97-2A>G rs201869074 0.00022
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu) rs753168976 0.00021
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_000156.6(GAMT):c.575C>T (p.Thr192Met) rs141066224 0.00013
NM_001875.5(CPS1):c.121G>T (p.Val41Phe) rs148708735 0.00013
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) rs376314751 0.00013
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_000170.3(GLDC):c.2518A>G (p.Met840Val) rs781693346 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr) rs199643928 0.00011
NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter) rs200617042 0.00010
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 0.00009
NM_194279.4(ISCA2):c.361G>T (p.Val121Leu) rs201908228 0.00009
NM_000666.3(ACY1):c.437-19G>A rs757575874 0.00008
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala) rs753268767 0.00007
NM_004170.6(SLC1A1):c.768-4C>G rs368368579 0.00007
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del) rs756068592 0.00006
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp) rs367595060 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys) rs368630371 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp) rs781243504 0.00006
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys) rs895237537 0.00006
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr) rs764335664 0.00006
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_001010898.4(SLC6A17):c.754-4G>A rs773243821 0.00004
NM_001012720.2(RGR):c.34G>A (p.Gly12Arg) rs751874712 0.00004
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu) rs201065535 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001698.3(AUH):c.374G>A (p.Arg125Gln) rs137939308 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln) rs773052090 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg) rs376876176 0.00004
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr) rs534553558 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000320.3(QDPR):c.118G>A (p.Val40Ile) rs769586091 0.00003
NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met) rs757150136 0.00003
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln) rs201484501 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser) rs1047579926 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln) rs372095379 0.00003
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006859.4(LIAS):c.877A>G (p.Met293Val) rs943564525 0.00003
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser) rs761452056 0.00003
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 0.00003
NM_032861.4(SERAC1):c.1828+3A>G rs773193644 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr) rs140260331 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr) rs773749632 0.00002
NM_000360.4(TH):c.216C>T (p.Ala72=) rs773288225 0.00002
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337 0.00002
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln) rs201870833 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) rs773858764 0.00002
NM_004279.3(PMPCB):c.-3G>T rs771831705 0.00002
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_000018.4(ACADVL):c.342+18G>A rs372594520 0.00001
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu) rs746180694 0.00001
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln) rs753245184 0.00001
NM_000126.4(ETFA):c.-40G>A rs1057521597 0.00001
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) rs1166705959 0.00001
NM_000137.4(FAH):c.692T>C (p.Met231Thr) rs772824887 0.00001
NM_000156.6(GAMT):c.25A>G (p.Ile9Val) rs1555777381 0.00001
NM_000156.6(GAMT):c.438A>G (p.Thr146=) rs80338733 0.00001
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu) rs373482451 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.235A>G (p.Met79Val) rs751177187 0.00001
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His) rs143190442 0.00001
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_001001563.5(TIMM50):c.854-8G>C rs1166132682 0.00001
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) rs1191467500 0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) rs1245306816 0.00001
NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His) rs146348475 0.00001
NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr) rs1397377730 0.00001
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln) rs753604213 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) rs142288136 0.00001
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His) rs776369896 0.00001
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala) rs1331493457 0.00001
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser) rs960976552 0.00001
NM_001367823.1(ARHGEF18):c.2089T>G (p.Ser697Ala) rs1250391682 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly) rs1276176761 0.00001
NM_001985.3(ETFB):c.58-87A>C rs1986023015 0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val) rs769577441 0.00001
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln) rs746880995 0.00001
NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg) rs752266462 0.00001
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg) rs777654434 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys) rs764538705 0.00001
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr) rs556255123 0.00001
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) rs760851100 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val) rs749932833 0.00001
NM_014049.5(ACAD9):c.220G>A (p.Val74Met) rs779258809 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg) rs1016086446 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp) rs1022155897 0.00001
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu) rs1455975616 0.00001
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu) rs1479566156 0.00001
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser) rs1468529365 0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) rs1427845684 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=) rs757439664 0.00001
NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu) rs965127002 0.00001
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly) rs746848060
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys) rs932875709
NM_000048.4(ASL):c.207G>A (p.Lys69=) rs886043007
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro) rs2032348536
NM_000108.5(DLD):c.217A>C (p.Asn73His) rs796051949
NM_000108.5(DLD):c.656T>C (p.Ile219Thr) rs2032006962
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
NM_000156.6(GAMT):c.182-3_182dup rs2082624287
NM_000156.6(GAMT):c.1A>G (p.Met1Val) rs796052527
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe) rs763294577
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu) rs1819724719
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr) rs1669504364
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn) rs1638574066
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val) rs1638800964
NM_000240.4(MAOA):c.411+12G>A rs2033703535
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) rs867154364
NM_000327.4(ROM1):c.167C>T (p.Ser56Phe) rs199847029
NM_000353.3(TAT):c.623A>T (p.Lys208Met) rs2044208144
NM_000360.4(TH):c.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu) rs1257439275
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu) rs1701179354
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln) rs953420417
NM_000666.3(ACY1):c.921+21A>T rs1701122828
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile) rs2079507347
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn) rs371188005
NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile) rs1188854712
NM_001024845.3(SLC6A9):c.31-6241del rs1460786911
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001142800.2(EYS):c.2525C>A (p.Thr842Asn) rs1768034633
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr) rs751705317
NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val) rs1187720594
NM_001244926.2(PRPF4):c.654+4A>T rs556015541
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) rs1949509947
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln) rs1949489503
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly) rs2054031451
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=) rs2054119126
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu) rs2054212404
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln) rs1430565994
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro) rs2054438338
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val) rs758072259
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) rs1889422661
NM_001510.4(GRID2):c.-62C>T
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr) rs1728640535
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly) rs752073311
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser) rs145529589
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001985.3(ETFB):c.58-27C>T
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) rs771386671
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_003060.4(SLC22A5):c.394-151C>G
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu) rs368241243
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe) rs2039348270
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) rs1400780690
NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln)
NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg) rs767138995
NM_004279.3(PMPCB):c.150A>C (p.Gln50His) rs762743960
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) rs1984245487
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.568-12T>G rs1984280025
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg) rs1037162967
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser) rs1328810626
NM_005881.4(BCKDK):c.846-3T>A rs118042732
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe) rs1644131560
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006343.3(MERTK):c.597T>A (p.Phe199Leu) rs1573591956
NM_006721.4(ADK):c.741T>A (p.Phe247Leu) rs786205458
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp) rs1191295540
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly) rs773069554
NM_006907.4(PYCR1):c.-378G>C
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro) rs1675478353
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser) rs115532916
NM_014251.3(SLC25A13):c.1452+5C>G
NM_014252.4(SLC25A15):c.731G>T (p.Gly244Val) rs747658091
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) rs1315908015
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly) rs1248460683
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
NM_014384.3(ACAD8):c.763G>A (p.Val255Met) rs899220061
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_016011.5(MECR):c.161C>T (p.Pro54Leu) rs1683215661
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_018255.4(ELP2):c.1321C>G (p.Leu441Val) rs2090578313
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys) rs201559023
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg) rs201559023
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) rs1177891822
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter)
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_144639.3(UROC1):c.640G>A (p.Gly214Ser) rs751617501
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) rs1974091514
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) rs187897763
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser) rs2036063280
NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys) rs1692522564

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