ClinVar Miner

List of variants in gene SERAC1 reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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GRCh37/hg19 6q25.3(chr6:158567861-158571603)
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter)
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-239G>C rs1562458915

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