ClinVar Miner

List of variants reported as likely benign for combined oxidative phosphorylation deficiency by Natera, Inc.

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019

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