List of variants reported as pathogenic for combined oxidative phosphorylation defect type 11

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)	rs144972972	0.00013
NM_017909.4(RMND1):c.1250G>A (p.Arg417Gln)	rs397515421	0.00002
NM_017909.4(RMND1):c.613G>T (p.Asp205Tyr)	rs606231472	0.00001
GRCh37/hg19 6q25.1(chr6:151757398-151757691)
NM_017909.2(RMND1):c.1003delG	rs1057519299
NM_017909.3(RMND1):c.[613G>T];[713A>G]
NM_017909.4(RMND1):c.108del (p.Phe36fs)
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)	rs115079861
NM_017909.4(RMND1):c.485del (p.Pro162fs)	rs759477396
NM_017909.4(RMND1):c.504+1G>A	rs1562800908
NM_017909.4(RMND1):c.856del (p.Glu286fs)	rs1780213490

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