ClinVar Miner

List of variants reported as pathogenic for fatal multiple mitochondrial dysfunctions syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter) rs778374267 0.00004
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_001010867.4(IBA57):c.316del (p.Thr106fs) rs757794637 0.00003
NC_000001.10:g.(?_228194830)_(228566496_?)del
NM_001002755.4(NFU1):c.264del (p.Thr90fs)
NM_001002755.4(NFU1):c.507del (p.Val170fs)
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) rs1558123212
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs) rs2034846986
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter) rs775646159
NM_001010867.4(IBA57):c.339C>G (p.Tyr113Ter)
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) rs1571918251
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)

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