ClinVar Miner

List of variants studied for amino acid metabolism disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
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_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
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_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388 0.00005
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558 0.00003
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000277.3(PAH):c.691T>C (p.Ser231Pro) rs5030845
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) rs750201480
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000360.4(TH):c.283del (p.Ala95fs) rs797045111
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_003322.6(TULP1):c.855dup (p.Val286fs) rs1554125752
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993

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