ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) rs143575106 0.00001
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) rs765926471
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)

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