ClinVar Miner

List of variants in gene SERAC1 reported as uncertain significance for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Included ClinVar conditions (1):
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Total variants: 21
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HGVS dbSNP
NM_032861.4(SERAC1):c.1016-5A>G
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) rs537530231
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
NM_032861.4(SERAC1):c.1404-3C>G
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) rs1020569740
NM_032861.4(SERAC1):c.1823dup (p.Ala609fs)
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) rs863224200
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) rs564717592
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.91A>G (p.Arg31Gly) rs146896149
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)

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