ClinVar Miner

List of variants in gene NSUN3 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
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_022072.5(NSUN3):c.295C>T (p.Arg99Ter) rs762031082 0.00001
NM_022072.5(NSUN3):c.123-615_466+2155del
NM_022072.5(NSUN3):c.421G>C (p.Ala141Pro) rs2077283982
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser) rs2077284206
NM_022072.5(NSUN3):c.541C>T (p.Gln181Ter)

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