List of variants in gene RMND1 reported as likely pathogenic for Combined oxidative phosphorylation defect type 11

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)	rs769890347
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_017909.4(RMND1):c.388del (p.Val130fs)	rs1582970514
NM_017909.4(RMND1):c.727del (p.Thr243fs)	rs1582957532
NM_017909.4(RMND1):c.729+1G>A
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe)	rs763077801

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