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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 103

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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_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
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_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	rs113994167	0.00116
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	rs5030858	0.00092
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)	rs121434280	0.00073
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_000372.5(TYR):c.1118C>A (p.Thr373Lys)	rs61754388	0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala)	rs76212747	0.00049
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00047
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	rs62642937	0.00036
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00032
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	rs5030860	0.00025
NM_000277.3(PAH):c.506G>A (p.Arg169His)	rs199475679	0.00020
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_000360.4(TH):c.605G>A (p.Arg202His)	rs80338892	0.00014
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_000017.4(ACADS):c.1147C>T (p.Arg383Cys)	rs28940872	0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	rs119458970	0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	rs118203982	0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	rs796051964	0.00007
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_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00005
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	rs769976586	0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	rs5030859	0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)	rs62645904	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)	rs754980119	0.00004
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)	rs143492730	0.00004
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	rs113994169	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_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)	rs140277700	0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	rs753711253	0.00002
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_000277.3(PAH):c.169-2A>G	rs1226613045	0.00001
NM_000360.4(TH):c.1103C>T (p.Thr368Met)	rs1057520384	0.00001
NM_001698.3(AUH):c.263-2A>G	rs730880311	0.00001
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)	rs368321176	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_000018.4(ACADVL):c.552C>A (p.Ile184=)	rs770961747
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_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
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.357del (p.Trp120fs)	rs794727619
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)	rs2152278559
NM_000372.5(TYR):c.1237del (p.Glu413fs)	rs1565423615
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter)	rs1581166539
NM_000481.4(AMT):c.14dup (p.Ser6fs)	rs773988915
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)	rs72558416
NM_001010867.4(IBA57):c.292del (p.His98fs)
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_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter)	rs2140853464
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	rs202107577
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
NM_003042.4(SLC6A1):c.235G>A (p.Gly79Arg)	rs1085307804
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)	rs1553689696
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
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_005957.5(MTHFR):c.1166+5G>C	rs1483632178
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)	rs1297161027
NM_012213.3(MLYCD):c.175A>T (p.Lys59Ter)
NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)
NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	rs866688232
NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)	rs80338719
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_183050.4(BCKDHB):c.272del (p.Ala91fs)	rs2127726212
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser)	rs569826109
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs)	rs869312180

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