List of variants reported as likely pathogenic for combined oxidative phosphorylation defect type 24

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln)	rs150879145	0.00003
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	rs1565216037
NM_024678.6(NARS2):c.252-2A>G
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024678.6(NARS2):c.947del (p.Asn316fs)	rs755975670
NM_024678.6(NARS2):c.959+1505T>G
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	rs565224393

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