ClinVar Miner

List of variants in gene IDH3A studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_005530.3(IDH3A):c.550T>C (p.Phe184Leu) rs1259883219 0.00003
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_005530.3(IDH3A):c.937A>C (p.Met313Leu) rs995215356 0.00001
NM_005530.3(IDH3A):c.946C>T (p.Arg316Cys) rs770798851 0.00001
NM_005530.3(IDH3A):c.280G>A (p.Gly94Ser)
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr) rs756333430
NM_005530.3(IDH3A):c.403del (p.Thr135fs) rs2074682724
NM_005530.3(IDH3A):c.463G>T (p.Gly155Ter) rs2074683444
NM_005530.3(IDH3A):c.524C>T (p.Ala175Val) rs765473830
NM_005530.3(IDH3A):c.532C>T (p.Arg178Cys)
NM_005530.3(IDH3A):c.612G>A (p.Met204Ile) rs2074705330
NM_005530.3(IDH3A):c.716T>C (p.Met239Thr) rs2074707744
NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)
NM_005530.3(IDH3A):c.904_916del (p.Ala302fs)

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