ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Myriad Genetics, Inc.

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 548
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
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_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646 0.00008
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640 0.00004
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu) rs184148104 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) rs121964966 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000045.4(ARG1):c.57+1G>A rs587776539 0.00001
NM_000048.4(ASL):c.280C>T (p.Arg94Cys) rs374304304 0.00001
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter) rs1251538998 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000277.3(PAH):c.505C>T (p.Arg169Cys) rs281865440 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 0.00001
NM_000016.6(ACADM):c.193dup (p.Ala65fs)
NM_000016.6(ACADM):c.212del (p.Gly71fs)
NM_000016.6(ACADM):c.321_322del (p.Leu107fs)
NM_000016.6(ACADM):c.348T>A (p.Cys116Ter)
NM_000016.6(ACADM):c.467del (p.Cys156fs)
NM_000016.6(ACADM):c.556_557del (p.Asn186fs)
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
NM_000017.4(ACADS):c.125_126del (p.Leu42fs)
NM_000017.4(ACADS):c.224del (p.Gly75fs)
NM_000017.4(ACADS):c.423_424del (p.Pro142fs)
NM_000017.4(ACADS):c.518_519insCTGCT (p.Glu173fs)
NM_000017.4(ACADS):c.54dup (p.Pro19fs)
NM_000017.4(ACADS):c.607A>T (p.Arg203Ter)
NM_000017.4(ACADS):c.711del (p.Thr238fs)
NM_000017.4(ACADS):c.872_873del (p.Val291fs)
NM_000017.4(ACADS):c.916A>T (p.Lys306Ter)
NM_000018.4(ACADVL):c.1073del (p.Lys358fs)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1505del (p.Leu502fs)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1542_1543insA (p.Leu515fs)
NM_000018.4(ACADVL):c.1632del (p.Thr545fs)
NM_000018.4(ACADVL):c.1748C>A (p.Ser583Ter)
NM_000018.4(ACADVL):c.267del (p.Tyr90fs)
NM_000018.4(ACADVL):c.475del (p.Gln159fs)
NM_000018.4(ACADVL):c.589del (p.Gln197fs)
NM_000018.4(ACADVL):c.602_605del (p.Tyr201fs)
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)
NM_000018.4(ACADVL):c.658_659del (p.Ser220fs)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
NM_000018.4(ACADVL):c.873_874del (p.Thr292fs)
NM_000045.4(ARG1):c.140_141del (p.Val47fs)
NM_000045.4(ARG1):c.143_146del (p.Lys48fs)
NM_000045.4(ARG1):c.145_146insC (p.Asp49fs)
NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer)
NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs)
NM_000045.4(ARG1):c.432_448del (p.Val145fs)
NM_000045.4(ARG1):c.459del (p.Gly154fs)
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter)
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter)
NM_000048.4(ASL):c.117del (p.Gln40fs)
NM_000048.4(ASL):c.118_119del (p.Gln40fs)
NM_000048.4(ASL):c.143del (p.Gly48fs)
NM_000048.4(ASL):c.243_244del (p.Asn82fs)
NM_000048.4(ASL):c.256G>T (p.Glu86Ter) rs1786532924
NM_000048.4(ASL):c.371G>A (p.Trp124Ter) rs1786558070
NM_000048.4(ASL):c.372G>A (p.Trp124Ter) rs1786558148
NM_000048.4(ASL):c.379C>T (p.Gln127Ter) rs1786558577
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)
NM_000048.4(ASL):c.403_404insCAAG (p.Leu135fs)
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)
NM_000048.4(ASL):c.57del (p.Ile20fs)
NM_000048.4(ASL):c.698_699delinsA (p.Thr233fs)
NM_000048.4(ASL):c.721G>T (p.Glu241Ter) rs1786746301
NM_000048.4(ASL):c.736del (p.Ala246fs)
NM_000048.4(ASL):c.814C>T (p.Gln272Ter) rs1786750679
NM_000048.4(ASL):c.999_1000del (p.Phe333fs)
NM_000071.3(CBS):c.1075A>T (p.Lys359Ter)
NM_000071.3(CBS):c.1179del (p.Lys394fs)
NM_000071.3(CBS):c.1210G>T (p.Glu404Ter) rs1981682654
NM_000071.3(CBS):c.1288_1289del (p.Thr430fs)
NM_000071.3(CBS):c.218_230del (p.Ser73fs)
NM_000071.3(CBS):c.430G>T (p.Glu144Ter) rs121964966
NM_000071.3(CBS):c.503_504del (p.Val168fs)
NM_000071.3(CBS):c.529A>T (p.Lys177Ter) rs1982601982
NM_000071.3(CBS):c.588del (p.Arg196fs)
NM_000071.3(CBS):c.606dup (p.His203fs)
NM_000071.3(CBS):c.637G>T (p.Glu213Ter) rs758703098
NM_000071.3(CBS):c.715G>T (p.Glu239Ter) rs1982493665
NM_000071.3(CBS):c.95delinsATAAGAGACAGT (p.Ser32fs)
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) rs2032293119
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) rs2032293586
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
NM_000108.5(DLD):c.19dup (p.Val7fs)
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) rs2031930307
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) rs2032247686
NM_000108.5(DLD):c.801del (p.Lys267fs)
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) rs2032249629
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) rs2032281944
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) rs2032282970
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
NM_000137.4(FAH):c.394C>T (p.Gln132Ter) rs2041155591
NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
NM_000137.4(FAH):c.835C>T (p.Gln279Ter) rs2041255686
NM_000137.4(FAH):c.910A>T (p.Lys304Ter) rs2041271608
NM_000137.4(FAH):c.919G>T (p.Gly307Ter) rs2041294652
NM_000137.4(FAH):c.971G>A (p.Trp324Ter) rs2041316956
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter) rs1970710230
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter) rs1252148225
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) rs1970564107
NM_000159.4(GCDH):c.197_198del (p.Leu66fs)
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter) rs1302922191
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter) rs976647697
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter) rs1970671544
NM_000159.4(GCDH):c.870_871del (p.Asn291fs)
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter) rs1970694961
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter) rs1970707032
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter) rs1818692381
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter) rs555359738
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter) rs1818407147
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter) rs1818405533
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter) rs1818404451
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter) rs1038321056
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter) rs1818289261
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter) rs1818289122
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter) rs1563836857
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter) rs149694787
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter) rs1817497939
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter) rs765893483
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter) rs1817123754
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter) rs759933539
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter) rs1817121202
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter) rs1819702000
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter) rs2129948971
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter) rs1819059889
NM_000170.3(GLDC):c.447del (p.Asn150fs)
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter) rs1819058509
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
NM_000170.3(GLDC):c.493del (p.Gln165fs)
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter) rs759699162
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter) rs1163351205
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter) rs776895767
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
NM_000170.3(GLDC):c.74del (p.Gly25fs)
NM_000170.3(GLDC):c.754del (p.Met252fs)
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter) rs1818703974
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter) rs1818695432
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter) rs143256976
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
NM_000182.5(HADHA):c.1168A>T (p.Lys390Ter) rs1669918554
NM_000182.5(HADHA):c.1235_1236del (p.Val412fs)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1513A>T (p.Lys505Ter) rs1669632177
NM_000182.5(HADHA):c.1519_1520insCTTT (p.Gln507fs)
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1891A>T (p.Lys631Ter)
NM_000182.5(HADHA):c.1944_1945del (p.Asn649fs)
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter) rs1670695099
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter) rs1460602961
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter) rs1670693281
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter) rs11552518
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter) rs1670589674
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter) rs1670587952
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
NM_000182.5(HADHA):c.761del (p.Lys254fs)
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter) rs1670172615
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter) rs1670172561
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter) rs1670128490
NM_000187.4(HGD):c.148_149del (p.Thr50fs)
NM_000187.4(HGD):c.170del (p.Lys57fs)
NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)
NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)
NM_000187.4(HGD):c.626_635del (p.Glu209fs)
NM_000187.4(HGD):c.662T>A (p.Leu221Ter)
NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)
NM_000187.4(HGD):c.748del (p.Gln250fs)
NM_000187.4(HGD):c.824del (p.Tyr275fs)
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter) rs1638620864
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter) rs1638619737
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter) rs139799938
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter) rs1638446662
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter) rs1638446514
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) rs1767739242
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.975del (p.Arg326fs)
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100
NM_000277.3(PAH):c.1081A>T (p.Lys361Ter)
NM_000277.3(PAH):c.1087A>T (p.Lys363Ter)
NM_000277.3(PAH):c.1111A>T (p.Lys371Ter)
NM_000277.3(PAH):c.120_121del (p.Leu41fs)
NM_000277.3(PAH):c.148A>T (p.Lys50Ter)
NM_000277.3(PAH):c.337A>T (p.Lys113Ter)
NM_000277.3(PAH):c.365_366delinsT (p.Pro122fs)
NM_000277.3(PAH):c.440del (p.Pro147fs)
NM_000277.3(PAH):c.467del (p.Ala156fs)
NM_000277.3(PAH):c.527G>A (p.Arg176Gln) rs74486803
NM_000277.3(PAH):c.535_536del (p.Tyr179fs)
NM_000277.3(PAH):c.640G>T (p.Glu214Ter)
NM_000277.3(PAH):c.676del (p.Gln226fs)
NM_000277.3(PAH):c.693_694del (p.Gln232fs)
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.878del (p.Leu293fs)
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
NM_000282.4(PCCA):c.459del (p.Arg154fs)
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
NM_000282.4(PCCA):c.622del (p.Ile208fs)
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
NM_000282.4(PCCA):c.786del (p.Lys262fs)
NM_000282.4(PCCA):c.837del (p.His279fs)
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
NM_000317.3(PTS):c.208del (p.Val70fs)
NM_000353.3(TAT):c.1015del (p.Tyr339fs)
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)
NM_000353.3(TAT):c.18_19del (p.Gln7fs)
NM_000353.3(TAT):c.274_275del (p.Glu92fs)
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
NM_000353.3(TAT):c.8dup (p.Tyr4fs)
NM_000360.4(TH):c.291_292del (p.Arg98fs)
NM_000360.4(TH):c.328del (p.Ile110fs)
NM_000360.4(TH):c.354_370del (p.Gln119fs)
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs)
NM_000360.4(TH):c.523A>T (p.Lys175Ter)
NM_000360.4(TH):c.548dup (p.Asp184fs)
NM_000360.4(TH):c.634C>T (p.Gln212Ter)
NM_000360.4(TH):c.748del (p.Glu250fs)
NM_000360.4(TH):c.792C>G (p.Tyr264Ter)
NM_000360.4(TH):c.811C>T (p.Gln271Ter)
NM_000360.4(TH):c.835dup (p.Leu279fs)
NM_000360.4(TH):c.839_840insCC (p.Lys280fs)
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
NM_000531.6(OTC):c.261_262del (p.Arg89fs)
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)
NM_000531.6(OTC):c.50_53del (p.Gly17fs)
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
NM_000532.5(PCCB):c.488del (p.Gly163fs)
NM_000532.5(PCCB):c.52del (p.Ala18fs)
NM_000532.5(PCCB):c.809del (p.Asn270fs)
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter) rs2039242789
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
NM_000709.4(BCKDHA):c.292_293del (p.Pro98fs)
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) rs1459441231
NM_000709.4(BCKDHA):c.429del (p.Ser144fs)
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter) rs575806482
NM_000709.4(BCKDHA):c.655del (p.Ala219fs)
NM_000709.4(BCKDHA):c.695_696del (p.Val232fs)
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) rs1303770209
NM_000709.4(BCKDHA):c.755_756insA (p.Phe252fs)
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter) rs2039381583
NM_000709.4(BCKDHA):c.955del (p.Ala319fs)
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter) rs1698622742
NM_001875.5(CPS1):c.1453del (p.Leu485fs)
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter) rs1698631663
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter) rs1698686495
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter) rs1698754274
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter) rs1698930454
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter) rs1337182136
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter) rs1698933356
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter) rs1574586310
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter) rs1699148940
NM_001875.5(CPS1):c.2470_2471del (p.Thr824fs)
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter) rs1699157096
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter) rs1699309581
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter) rs1699310308
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter) rs754706559
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter) rs1700084097
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter) rs1028099185
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
NM_001875.5(CPS1):c.2913del (p.Phe971fs)
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter) rs1700257346
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter) rs1700264768
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter) rs1700428230
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter) rs779856996
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter) rs1700523651
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter) rs1700715255
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter) rs774692248
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter) rs1700881929
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
NM_001875.5(CPS1):c.3933del (p.Met1312fs)
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter) rs1305147387
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter) rs1701172643
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
NM_001876.4(CPT1A):c.1113_1120del (p.Glu372fs)
NM_001876.4(CPT1A):c.1406_1407del (p.Leu469fs)
NM_001876.4(CPT1A):c.1707del (p.Phe569fs)
NM_001876.4(CPT1A):c.1829_1830del (p.Thr610fs)
NM_001876.4(CPT1A):c.1858del (p.Val620fs)
NM_001876.4(CPT1A):c.1883del (p.Gln628fs)
NM_001876.4(CPT1A):c.1914_1915del (p.Lys639fs)
NM_001876.4(CPT1A):c.1993_1995delinsT (p.Lys665fs)
NM_001876.4(CPT1A):c.242T>A (p.Leu81Ter)
NM_001876.4(CPT1A):c.331_334del (p.Gly111fs)
NM_001876.4(CPT1A):c.357_358insTTATC (p.Val120fs)
NM_001876.4(CPT1A):c.416_417insTCTTGGTG (p.Glu139fs)
NM_001876.4(CPT1A):c.483del (p.Lys161fs)
NM_001876.4(CPT1A):c.483dup (p.Pro162fs)
NM_001876.4(CPT1A):c.783T>A (p.Tyr261Ter)
NM_001918.5(DBT):c.111_114del (p.Cys38fs)
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) rs1661796496
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) rs794727262
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)
NM_001918.5(DBT):c.187C>T (p.Gln63Ter) rs1663814241
NM_001918.5(DBT):c.196C>T (p.Gln66Ter) rs1663814011
NM_001918.5(DBT):c.209C>A (p.Ser70Ter) rs398123664
NM_001918.5(DBT):c.298G>T (p.Glu100Ter) rs1663520073
NM_001918.5(DBT):c.325dup (p.Thr109fs)
NM_001918.5(DBT):c.511del (p.Thr171fs)
NM_001918.5(DBT):c.567_568del (p.Ser189fs)
NM_001918.5(DBT):c.573del (p.Val192fs)
NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)
NM_001918.5(DBT):c.70C>T (p.Gln24Ter) rs1664173086
NM_001918.5(DBT):c.743_744del (p.Thr248fs)
NM_001918.5(DBT):c.775_778del (p.Phe259fs)
NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)
NM_001918.5(DBT):c.961C>T (p.Gln321Ter) rs1662088383
NM_002225.5(IVD):c.263del (p.Gly88fs)
NM_002225.5(IVD):c.272del (p.Gly91fs)
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
NM_002225.5(IVD):c.693dup (p.Pro232fs)
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
NM_003060.4(SLC22A5):c.1147G>T (p.Glu383Ter)
NM_003060.4(SLC22A5):c.1195del (p.Arg399fs)
NM_003060.4(SLC22A5):c.1258del (p.Val420fs)
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.475_476del (p.Ile159fs)
NM_003060.4(SLC22A5):c.82_83del (p.Ser28fs)
NM_003060.4(SLC22A5):c.858_859del (p.Gln287fs)
NM_004937.3(CTNS):c.236del (p.Pro79fs)
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter) rs376042415
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter) rs2076100759
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter)
NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs)
NM_054012.4(ASS1):c.432_433del (p.Trp145fs)
NM_054012.4(ASS1):c.493A>T (p.Lys165Ter)
NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs)
NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs)
NM_054012.4(ASS1):c.844_850del (p.Tyr282fs)
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter) rs1727814966
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
NM_183050.4(BCKDHB):c.163_164del (p.Thr55fs)
NM_183050.4(BCKDHB):c.211dup (p.Met71fs)
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) rs1772645594
NM_183050.4(BCKDHB):c.415_416del (p.Thr139fs)
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) rs1772735425
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) rs1772736212
NM_183050.4(BCKDHB):c.559_560del (p.Gly187fs)
NM_183050.4(BCKDHB):c.56_57del (p.Ala19fs)
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) rs1389512878
NM_183050.4(BCKDHB):c.691_693delinsAA (p.Asp231fs)
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter) rs537988425
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) rs933828560
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) rs1774369632
NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.