ClinVar Miner

List of variants reported as likely 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: 21
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HGVS dbSNP gnomAD frequency
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000320.3(QDPR):c.630-17T>C rs201581320 0.00193
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_000320.3(QDPR):c.423G>A (p.Leu141=) rs1553875093 0.00001
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156

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