ClinVar Miner

List of variants in gene NDUFA6 studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro) rs750830935
NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter) rs758833609
NM_002490.6(NDUFA6):c.309del (p.Met104fs) rs763006208
NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs) rs1569463838
NM_002490.6(NDUFA6):c.355del (p.Leu119fs) rs781099275
NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile) rs1023075742

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