ClinVar Miner

List of variants reported as benign for Oxoglutaricaciduria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002541.4(OGDH):c.2973G>A (p.Ala991=) rs2070606 0.13683
NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile) rs2070607 0.03912
NM_002541.4(OGDH):c.345A>G (p.Glu115=) rs11557280 0.03827
NM_002541.4(OGDH):c.2988C>T (p.Thr996=) rs61756583 0.03821
NM_002541.4(OGDH):c.3063C>T (p.Asn1021=) rs61756584 0.03755
NM_002541.4(OGDH):c.396G>A (p.Ser132=) rs41280648 0.03200
NM_002541.4(OGDH):c.2784A>G (p.Thr928=) rs112309751 0.00894
NM_002541.4(OGDH):c.1857T>C (p.Asn619=) rs113823811 0.00815
NM_002541.4(OGDH):c.164C>T (p.Ser55Leu) rs2230445 0.00668
NM_002541.4(OGDH):c.936-7G>A rs116644435 0.00209
NM_002541.4(OGDH):c.1188C>T (p.Gly396=) rs147519663 0.00193
NM_002541.4(OGDH):c.1206+19C>A rs202133522 0.00141
NM_002541.4(OGDH):c.935+15G>A rs139263859 0.00126
NM_002541.4(OGDH):c.357C>T (p.Asn119=) rs116191385 0.00124
NM_002541.4(OGDH):c.1968G>A (p.Ala656=) rs61756582 0.00103
NM_002541.4(OGDH):c.1830G>A (p.Thr610=) rs150682094 0.00100
NM_002541.4(OGDH):c.1032C>T (p.Ser344=) rs149447664 0.00011
NM_002541.4(OGDH):c.222+9C>T rs201280081 0.00011
NM_002541.4(OGDH):c.3042C>T (p.Phe1014=) rs144300328 0.00011
NM_002541.4(OGDH):c.3051C>T (p.Asp1017=) rs199595163 0.00007
NM_002541.4(OGDH):c.1422C>T (p.His474=) rs79522383 0.00006
NM_002541.4(OGDH):c.1137C>T (p.Ala379=)
NM_002541.4(OGDH):c.1152G>A (p.Val384=)
NM_002541.4(OGDH):c.2145G>A (p.Val715=)
NM_002541.4(OGDH):c.2632+17T>C
NM_002541.4(OGDH):c.39A>C (p.Pro13=) rs34777281
NM_002541.4(OGDH):c.414+20C>T
NM_002541.4(OGDH):c.518-15C>T

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.