ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 23

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala) rs3810206 0.73925
NM_032620.4(GTPBP3):c.198A>C (p.Thr66=) rs1864112 0.73888
NM_032620.4(GTPBP3):c.974+38G>A rs4808623 0.62097
NM_032620.4(GTPBP3):c.974+37G>C rs11669718 0.24676
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala) rs200086297 0.00026
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro) rs762821280 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_032620.4(GTPBP3):c.592-1G>C rs763165541 0.00004
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser) rs777934121 0.00004
NM_032620.4(GTPBP3):c.215C>T (p.Pro72Leu) rs542667981 0.00002
NM_032620.4(GTPBP3):c.673G>A (p.Glu225Lys) rs778983997 0.00002
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln) rs753748448 0.00001
NM_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln) rs1228454692 0.00001
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln) rs1404625905 0.00001
NM_032620.4(GTPBP3):c.392G>C (p.Ser131Thr) rs767434617 0.00001
NM_032620.4(GTPBP3):c.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032620.4(GTPBP3):c.664+18T>G rs369523370 0.00001
NM_032620.4(GTPBP3):c.682G>T (p.Ala228Ser) rs772348422 0.00001
NM_032620.4(GTPBP3):c.1009G>C (p.Asp337His) rs886037735
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.1291dup (p.Arg431fs) rs869320746
NM_032620.4(GTPBP3):c.1375G>A (p.Glu459Lys) rs886037734
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)
NM_032620.4(GTPBP3):c.221C>A (p.Ala74Asp) rs2074386578
NM_032620.4(GTPBP3):c.32_33delinsGTG (p.Gln11fs) rs886037736
NM_032620.4(GTPBP3):c.413C>A (p.Ala138Glu) rs770906277
NM_032620.4(GTPBP3):c.424G>A (p.Glu142Lys) rs2074392366
NM_032620.4(GTPBP3):c.476A>T (p.Glu159Val) rs730880255
NM_032620.4(GTPBP3):c.517C>T (p.Arg173Trp) rs1274363168
NM_032620.4(GTPBP3):c.521G>C (p.Arg174Pro) rs766510741
NM_032620.4(GTPBP3):c.554G>A (p.Gly185Asp) rs199876072
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter) rs1555726849
NM_032620.4(GTPBP3):c.664+23_664+26del rs765975578
NM_032620.4(GTPBP3):c.846del (p.Thr283fs)
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter) rs1599560256
NM_032620.4(GTPBP3):c.967del (p.Arg323fs)

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