ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs) rs769890347
NM_017909.4(RMND1):c.388del (p.Val130fs) rs1582970514
NM_017909.4(RMND1):c.727del (p.Thr243fs) rs1582957532
NM_017909.4(RMND1):c.859A>T (p.Ile287Phe) rs763077801

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