ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp) rs144744182 0.00172
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val) rs77305684 0.00027
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) rs143492730 0.00004
NM_001010867.4(IBA57):c.292del (p.His98fs)
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)

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