ClinVar Miner

List of variants in gene DNAJC30 studied for Leber hereditary optic neuropathy, autosomal recessive

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser) rs965912564 0.00001
NM_032317.3(DNAJC30):c.227ACC[1] (p.His77del)
NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser) rs2116654445
NM_032317.3(DNAJC30):c.233C>G (p.Pro78Arg)
NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln) rs2116654140
NM_032317.3(DNAJC30):c.610G>T (p.Glu204Ter)

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