ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 24 by Baylor Genetics

Included ClinVar conditions (2):
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Total variants: 6
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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.847A>G (p.Thr283Ala) rs549442380 0.00010
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.436A>G (p.Arg146Gly) rs1856737824

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