ClinVar Miner

List of variants studied for fatal multiple mitochondrial dysfunctions syndrome by Revvity Omics, Revvity

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter) rs143492730 0.00004
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
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.422A>T (p.Gln141Leu)
NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)

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