ClinVar Miner

List of variants reported as pathogenic for inborn disorder of amino acid metabolism by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
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_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_058179.4(PSAT1):c.296C>T (p.Ala99Val) rs587777778 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_054012.4(ASS1):c.470G>A (p.Arg157His) rs121908637 0.00006
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter) rs140277700 0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_000159.4(GCDH):c.1199dup (p.Ile401fs) rs1970722328 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met) rs1057520384 0.00001
NM_000539.3(RHO):c.936+1G>T rs776014770 0.00001
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr) rs368321176 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn) rs936192871 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NC_000017.11:g.3600934_3658165del
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000048.4(ASL):c.556C>T (p.Arg186Trp) rs111407265
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs) rs80338736
NM_000156.6(GAMT):c.356dup (p.Asp119fs) rs2144637533
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000273.3(GPR143):c.36del (p.Thr13fs)
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)
NM_000277.3(PAH):c.1153dup (p.Leu385fs)
NM_000277.3(PAH):c.357del (p.Trp120fs) rs794727619
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.808A>G (p.Arg270Gly) rs199475690
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000372.5(TYR):c.1237del (p.Glu413fs) rs1565423615
NM_000372.5(TYR):c.773_774del (p.Thr258fs) rs1374400414
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_000481.4(AMT):c.14dup (p.Ser6fs) rs773988915
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.540del (p.Glu181fs) rs1271669044
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3097del (p.Glu1033fs)
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.9036del (p.Leu3013fs) rs1225304963
NM_001142800.2(EYS):c.9166_9167delinsCCTCCC (p.Ile3056fs)
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del) rs2101399429
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005629.4(SLC6A8):c.1142-15_1165del
NM_005629.4(SLC6A8):c.59_60delinsA (p.Gly20fs)
NM_005957.5(MTHFR):c.1166+5G>C rs1483632178
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_006269.2(RP1):c.2015del (p.Lys672fs)
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
NM_012213.3(MLYCD):c.475del (p.Ala159fs) rs796051991
NM_012213.3(MLYCD):c.667_668delinsT (p.Asn223fs)
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
NM_014270.5(SLC7A9):c.584G>A (p.Gly195Glu)
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_016373.4(WWOX):c.606-1778_792-2744del
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_020686.6(ABAT):c.1031G>A (p.Trp344Ter)
NM_183050.4(BCKDHB):c.272del (p.Ala91fs) rs2127726212
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.7040_7043delinsGAAAAGGGC (p.Val2347fs)

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.