ClinVar Miner

List of variants studied for amino acid metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp) rs13043752 0.01213
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=) rs55940366 0.00365
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000320.3(QDPR):c.29C>T (p.Ala10Val) rs371735382 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_000048.4(ASL):c.446+1G>A rs142637046 0.00008
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.251+19dup rs201469612
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_018368.4(LMBRD1):c.981-10dup rs202207965

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