ClinVar Miner

List of variants in gene NDUFB11 studied for inborn mitochondrial metabolism disorder

Included ClinVar conditions (407):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001135998.3(NDUFB11):c.427G>A (p.Asp143Asn) rs374083393 0.00002
NM_001135998.3(NDUFB11):c.260T>C (p.Met87Thr) rs1556760684 0.00001
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_001135998.3(NDUFB11):c.286T>C (p.Ser96Pro)
NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys) rs1057519073

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