ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Department of Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
GRCh37/hg19 12q24.31(chr12:123738221-123738503)
GRCh37/hg19 6q25.1(chr6:151757398-151757691)

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