ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (79):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_006567.5(FARS2):c.407C>A (p.Pro136His) rs199863563 0.00022
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092 0.00019
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_006567.5(FARS2):c.310C>T (p.Arg104Cys) rs982485775 0.00006
NM_006567.5(FARS2):c.1094A>G (p.Asn365Ser) rs373811519 0.00004
NM_006567.5(FARS2):c.676C>T (p.His226Tyr) rs201991648 0.00004
NM_006567.5(FARS2):c.*4C>T rs200232967 0.00003
NM_006567.5(FARS2):c.332C>T (p.Ser111Leu) rs369145259 0.00003
NM_006567.5(FARS2):c.706G>A (p.Val236Met) rs369015058 0.00003
NM_006567.5(FARS2):c.1054G>T (p.Val352Leu) rs1360751755 0.00001
NM_006567.5(FARS2):c.585G>A (p.Glu195=) rs764461862 0.00001
NM_006567.5(FARS2):c.638A>G (p.Glu213Gly) rs1044543244 0.00001
NM_006567.5(FARS2):c.1145A>G (p.Tyr382Cys) rs1472285290
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.28G>T (p.Ala10Ser) rs753993545
NM_006567.5(FARS2):c.426C>A (p.Asp142Glu) rs1561990280
NM_006567.5(FARS2):c.476A>C (p.His159Pro) rs1561990390
NM_006567.5(FARS2):c.748C>T (p.Leu250Phe) rs1562015600

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