ClinVar Miner

List of variants reported as likely pathogenic for fatal multiple mitochondrial dysfunctions syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.303-2A>T rs371546359 0.00009
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) rs1053773776 0.00003
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter) rs748505216 0.00001
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr) rs772014561 0.00001
NC_000002.11:g.(?_69627476)_(69627690_?)dup
NM_001002755.4(NFU1):c.485-1G>C rs1464338870
NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu) rs1281276965
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg) rs2104735490
NM_001010867.3(IBA57):c.[167G>A];[826C>T]
NM_001010867.4(IBA57):c.24del (p.Gly9fs)
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001010867.4(IBA57):c.341+1G>A rs1250537283
NM_001010867.4(IBA57):c.341+1G>T rs1250537283
NM_001010867.4(IBA57):c.341+2T>G
NM_001010867.4(IBA57):c.342-488_361del
NM_001010867.4(IBA57):c.678A>G (p.Gln226=) rs876657407
NM_001010867.4(IBA57):c.754G>A (p.Gly252Ser)
NM_004279.3(PMPCB):c.1078dup (p.Thr360fs)
NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter) rs760746927
NM_004279.3(PMPCB):c.543_544del (p.Glu181fs)
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) rs730882246
NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly)
NM_212552.3(BOLA3):c.220_222del (p.Glu74del) rs1209052568
NM_212552.3(BOLA3):c.259-1G>C

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