ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 24

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr) rs140016209 0.00069
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer) rs762191692 0.00043
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala) rs549442380 0.00010
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_024678.6(NARS2):c.141+5G>C rs766606763 0.00002
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys) rs1481123553 0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg) rs750594551 0.00001
NM_024678.6(NARS2):c.100C>G (p.Leu34Val)
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp) rs2135213081
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys) rs2135124873
NM_024678.6(NARS2):c.1352G>A (p.Arg451His)
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly) rs1856737824
NM_024678.6(NARS2):c.707T>C (p.Phe236Ser)
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)

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