ClinVar Miner

List of variants studied for amino acid metabolism disease by GeneReviews

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
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_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233 0.00061
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173 0.00031
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile) rs121964974 0.00016
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783 0.00016
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867 0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000187.4(HGD):c.808G>A (p.Gly270Arg) rs120074174 0.00006
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734 0.00005
NM_000187.4(HGD):c.16-1G>A rs397515347 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000187.4(HGD):c.688C>T (p.Pro230Ser) rs28942100 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) rs398123151 0.00002
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000156.6(GAMT):c.438A>G (p.Thr146=) rs80338733 0.00001
NM_000360.4(TH):c.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_003124.5(SPR):c.596-2A>G rs398122922 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000048.4(ASL):c.346C>T (p.Gln116Ter) rs367543006
NM_000137.4(FAH):c.103G>A (p.Ala35Thr) rs2142090724
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.698A>T (p.Asp233Val) rs80338897
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg) rs386833550
NM_000187.4(HGD):c.1111dup (p.His371fs) rs397515516
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.342+1G>A rs397515518
NM_000187.4(HGD):c.360T>G (p.Cys120Trp) rs149165166
NM_000187.4(HGD):c.457dup (p.Asp153fs) rs397515346
NM_000187.4(HGD):c.899T>G (p.Val300Gly) rs120074170
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly) rs1057519313
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter) rs1057519314
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs) rs1057519315
NM_001482.3(GATM):c.1111dup (p.Met371fs) rs397515542
NM_001482.3(GATM):c.446G>A (p.Trp149Ter) rs80338737
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) rs386834234

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