ClinVar Miner

List of variants reported as 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: 77
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
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_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
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_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000048.4(ASL):c.532G>A (p.Val178Met) rs28941473 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) rs121434367 0.00027
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_000048.4(ASL):c.857A>G (p.Gln286Arg) rs28941472 0.00015
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_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter) rs113994205 0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520 0.00005
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_000159.4(GCDH):c.1244-2A>C rs199999619 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_000048.4(ASL):c.447-1G>A rs778254333 0.00002
NM_000709.4(BCKDHA):c.288+1G>A rs398123496 0.00002
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000045.4(ARG1):c.466-1G>C rs1064794165 0.00001
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr) rs62516150 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.912+1G>A rs62514956 0.00001
NM_000709.4(BCKDHA):c.647-1G>C rs753216964 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000071.3(CBS):c.209+1G>A rs751464024
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) rs767241290
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter) rs121908893
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_054012.4(ASS1):c.421-2A>G rs751930594

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