ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 24 by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp) rs2135213081
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys) rs2135124873
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393

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