ClinVar Miner

List of variants in gene GTPBP3 reported as likely pathogenic for combined oxidative phosphorylation defect type 23

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
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.440C>T (p.Ala147Val) rs774708853 0.00001
NM_032620.4(GTPBP3):c.1112T>C (p.Leu371Pro) rs770871640
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
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.967del (p.Arg323fs)

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