ClinVar Miner

List of variants in gene SERAC1 studied for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

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Total variants: 47
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HGVS dbSNP
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1016-5A>G
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) rs537530231
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641
NM_032861.4(SERAC1):c.1308+7G>A rs201873667
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1404-3C>G
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) rs1020569740
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) rs564717592
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) rs375757326
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) rs146896149
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-239G>C rs1562458915
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
NM_032861.4(SERAC1):c.98_100TAA[1] (p.Ile34del) rs754630732

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