ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His) rs370150532 0.00004
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_213649.2(SFXN4):c.233del (p.Pro78fs) rs398124642
NM_213649.2(SFXN4):c.471+1G>A rs367932369

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