ClinVar Miner

List of variants reported as likely benign for Oxoglutaricaciduria

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_002541.4(OGDH):c.2458A>T (p.Asn820Tyr) rs151001666 0.00153
NM_002541.4(OGDH):c.1668+13G>A rs112502418 0.00058
NM_002541.4(OGDH):c.2958C>T (p.Ala986=) rs77040177 0.00047
NM_002541.4(OGDH):c.1146C>T (p.Pro382=) rs138707524 0.00016
NM_002541.4(OGDH):c.2904C>T (p.Tyr968=) rs546154454 0.00013
NM_002541.4(OGDH):c.1878G>A (p.Val626=) rs200061061 0.00010
NM_002541.4(OGDH):c.474C>T (p.Asp158=) rs140338378 0.00010
NM_002541.4(OGDH):c.1533C>T (p.Asn511=) rs776836611 0.00009
NM_002541.4(OGDH):c.1128C>T (p.His376=) rs781255892 0.00008
NM_002541.4(OGDH):c.2779A>G (p.Ile927Val) rs186750221 0.00008
NM_002541.4(OGDH):c.1542C>T (p.Asn514=) rs199871931 0.00006
NM_002541.4(OGDH):c.1803C>T (p.Ser601=) rs200859588 0.00006
NM_002541.4(OGDH):c.913G>A (p.Val305Met) rs200004357 0.00006
NM_002541.4(OGDH):c.1659T>C (p.Pro553=) rs762293053 0.00005
NM_002541.4(OGDH):c.1900+7C>T rs112859149 0.00004
NM_002541.4(OGDH):c.2031C>T (p.Asp677=) rs781776901 0.00001
NM_002541.4(OGDH):c.2226C>T (p.Leu742=) rs1235589142 0.00001
NM_002541.4(OGDH):c.255C>T (p.Ala85=) rs777219335 0.00001
NM_002541.4(OGDH):c.2811C>T (p.Pro937=) rs368444157 0.00001
NM_002541.4(OGDH):c.3012G>A (p.Thr1004=) rs759224032 0.00001
NM_002541.4(OGDH):c.1027-9C>T
NM_002541.4(OGDH):c.1116C>T (p.Ala372=)
NM_002541.4(OGDH):c.1317C>T (p.His439=)
NM_002541.4(OGDH):c.1335+19C>T rs1232308416
NM_002541.4(OGDH):c.1440C>T (p.Pro480=) rs769704074
NM_002541.4(OGDH):c.1470G>C (p.Ala490=)
NM_002541.4(OGDH):c.1473C>A (p.Ala491=)
NM_002541.4(OGDH):c.1638G>A (p.Ser546=)
NM_002541.4(OGDH):c.1771+16G>A
NM_002541.4(OGDH):c.1772-13C>G
NM_002541.4(OGDH):c.1772-16G>A
NM_002541.4(OGDH):c.1783C>T (p.Leu595=)
NM_002541.4(OGDH):c.1788C>T (p.Asp596=)
NM_002541.4(OGDH):c.18T>C (p.Thr6=)
NM_002541.4(OGDH):c.18T>G (p.Thr6=)
NM_002541.4(OGDH):c.1900+8G>A rs149255478
NM_002541.4(OGDH):c.1901-8C>G
NM_002541.4(OGDH):c.1974C>T (p.Tyr658=)
NM_002541.4(OGDH):c.1992C>A (p.Leu664=)
NM_002541.4(OGDH):c.1995G>A (p.Leu665=)
NM_002541.4(OGDH):c.2051+10T>C
NM_002541.4(OGDH):c.2283C>T (p.Phe761=)
NM_002541.4(OGDH):c.2376C>T (p.Ser792=)
NM_002541.4(OGDH):c.2397G>A (p.Leu799=)
NM_002541.4(OGDH):c.2451C>T (p.Phe817=)
NM_002541.4(OGDH):c.249G>A (p.Thr83=)
NM_002541.4(OGDH):c.2520C>T (p.His840=)
NM_002541.4(OGDH):c.2526A>G (p.Leu842=)
NM_002541.4(OGDH):c.2632+16A>T rs2116397855
NM_002541.4(OGDH):c.2632+7G>T
NM_002541.4(OGDH):c.267G>A (p.Pro89=)
NM_002541.4(OGDH):c.2727T>C (p.Tyr909=)
NM_002541.4(OGDH):c.2797-10T>C
NM_002541.4(OGDH):c.294C>T (p.Pro98=)
NM_002541.4(OGDH):c.2952-20C>T
NM_002541.4(OGDH):c.2958C>G (p.Ala986=)
NM_002541.4(OGDH):c.2997G>A (p.Lys999=)
NM_002541.4(OGDH):c.3036G>A (p.Thr1012=)
NM_002541.4(OGDH):c.327T>C (p.His109=)
NM_002541.4(OGDH):c.39A>G (p.Pro13=)
NM_002541.4(OGDH):c.405G>A (p.Arg135=)
NM_002541.4(OGDH):c.414+13C>T
NM_002541.4(OGDH):c.415-14T>C
NM_002541.4(OGDH):c.45G>A (p.Thr15=)
NM_002541.4(OGDH):c.517+10T>C
NM_002541.4(OGDH):c.518-14A>C
NM_002541.4(OGDH):c.633+16G>C
NM_002541.4(OGDH):c.915G>T (p.Val305=)
NM_002541.4(OGDH):c.935+17G>A
NM_002541.4(OGDH):c.936-16C>T

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