ClinVar Miner

List of variants reported as benign for amino acid metabolism disease by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_012213.3(MLYCD):c.528+19T>C rs446036 0.96188
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.58461
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_153006.3(NAGS):c.1096+20C>G rs228771 0.28327
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_000277.3(PAH):c.168+19T>C rs17842947 0.21168
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_012213.3(MLYCD):c.642-5C>T rs2278037 0.07436
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_000156.6(GAMT):c.570+165G>A rs74253480 0.00981
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.