ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Invitae

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 0.00040
NM_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
NM_032861.4(SERAC1):c.128+8G>A rs766928057 0.00011
NM_032861.4(SERAC1):c.1404-11G>A rs371357530 0.00011
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=) rs144641679 0.00011
NM_032861.4(SERAC1):c.552C>T (p.Ser184=) rs140671987 0.00011
NM_032861.4(SERAC1):c.711A>G (p.Glu237=) rs144125721 0.00011
NM_032861.4(SERAC1):c.1403+11C>T rs369586400 0.00008
NM_032861.4(SERAC1):c.355+10C>T rs760497677 0.00004
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202 0.00004
NM_032861.4(SERAC1):c.92-16T>C rs201656768 0.00004
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292 0.00004
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=) rs774371194 0.00003
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_032861.4(SERAC1):c.1684+7C>A rs765831183 0.00002
NM_032861.4(SERAC1):c.1016-5A>G rs1321114507 0.00001
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=) rs1219406942 0.00001
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=) rs1398045297 0.00001
NM_032861.4(SERAC1):c.1685-12A>G rs1327940001 0.00001
NM_032861.4(SERAC1):c.285A>G (p.Arg95=) rs752918334 0.00001
NM_032861.4(SERAC1):c.387T>C (p.His129=) rs781658698 0.00001
NM_032861.4(SERAC1):c.487+12A>G rs531094036 0.00001
NM_032861.4(SERAC1):c.525G>A (p.Pro175=) rs774652383 0.00001
NM_032861.4(SERAC1):c.738+7T>C rs1784954711 0.00001
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
NM_032861.4(SERAC1):c.1166+15G>A
NM_032861.4(SERAC1):c.1166+8del rs766776726
NM_032861.4(SERAC1):c.1167-15T>C
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=) rs2128412053
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
NM_032861.4(SERAC1):c.128+7C>T
NM_032861.4(SERAC1):c.1309-18A>G
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
NM_032861.4(SERAC1):c.138A>G (p.Leu46=) rs777425675
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
NM_032861.4(SERAC1):c.1501+16A>C rs369225459
NM_032861.4(SERAC1):c.1501+16A>G rs369225459
NM_032861.4(SERAC1):c.1502-16C>T
NM_032861.4(SERAC1):c.1502-20T>A rs867006888
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
NM_032861.4(SERAC1):c.1684+10T>C
NM_032861.4(SERAC1):c.1684+20A>G
NM_032861.4(SERAC1):c.1684+7C>T rs765831183
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
NM_032861.4(SERAC1):c.195G>A (p.Val65=) rs2128422348
NM_032861.4(SERAC1):c.21C>T (p.Cys7=) rs139301835
NM_032861.4(SERAC1):c.265+11T>C
NM_032861.4(SERAC1):c.265+11del
NM_032861.4(SERAC1):c.356-16T>C rs1785075456
NM_032861.4(SERAC1):c.356-20G>C
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
NM_032861.4(SERAC1):c.610-17C>G
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
NM_032861.4(SERAC1):c.739-13A>G
NM_032861.4(SERAC1):c.739-15T>A rs1055428813
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
NM_032861.4(SERAC1):c.780T>C (p.Ala260=) rs2128415873
NM_032861.4(SERAC1):c.840A>T (p.Val280=) rs2128415848
NM_032861.4(SERAC1):c.852+16A>T
NM_032861.4(SERAC1):c.852+7T>C rs1452026354
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
NM_032861.4(SERAC1):c.91+13T>A
NM_032861.4(SERAC1):c.91+9A>G
NM_032861.4(SERAC1):c.92-17C>T rs1785305261
NM_032861.4(SERAC1):c.92-20del
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732

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