ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004279.3(PMPCB):c.524G>A (p.Arg175His) rs200188353 0.00005
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) rs1354126704 0.00001
NM_001002755.4(NFU1):c.545+5G>A rs756085990 0.00001
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246

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