ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 27 by Baylor Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00270
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00088
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00011
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) rs1047045222 0.00001
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) rs1887287265

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