ClinVar Miner

List of variants in gene combination CARS2, LOC130010127 reported as likely benign for Combined oxidative phosphorylation defect type 27

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.122C>T (p.Ala41Val) rs371950209 0.00077
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) rs779385700 0.00013
NM_024537.4(CARS2):c.136A>G (p.Thr46Ala) rs771202761 0.00006
NM_024537.4(CARS2):c.21C>T (p.Gly7=) rs938858276 0.00006
NM_024537.4(CARS2):c.66G>C (p.Gly22=) rs2502284178 0.00004
NM_024537.4(CARS2):c.33C>A (p.Gly11=) rs907423199 0.00003
NM_024537.4(CARS2):c.127C>T (p.Leu43=) rs1189964054 0.00002
NM_024537.4(CARS2):c.42G>T (p.Leu14=) rs1010589821 0.00002
NM_024537.4(CARS2):c.117G>A (p.Gly39=) rs1324528918 0.00001
NM_024537.4(CARS2):c.150G>T (p.Thr50=) rs752758322 0.00001
NM_024537.4(CARS2):c.96G>A (p.Arg32=) rs1197154657 0.00001
NM_024537.4(CARS2):c.108G>A (p.Gly36=) rs977882652
NM_024537.4(CARS2):c.108G>C (p.Gly36=) rs977882652
NM_024537.4(CARS2):c.111G>A (p.Gly37=)
NM_024537.4(CARS2):c.117G>C (p.Gly39=)
NM_024537.4(CARS2):c.117G>T (p.Gly39=) rs1324528918
NM_024537.4(CARS2):c.118C>A (p.Arg40=) rs1426766304
NM_024537.4(CARS2):c.141C>T (p.Gly47=) rs749408803
NM_024537.4(CARS2):c.144G>A (p.Arg48=) rs2139947251
NM_024537.4(CARS2):c.24A>T (p.Pro8=) rs1398511016
NM_024537.4(CARS2):c.30G>C (p.Leu10=) rs1353742900
NM_024537.4(CARS2):c.33C>T (p.Gly11=) rs907423199
NM_024537.4(CARS2):c.48G>A (p.Gln16=) rs2139948147
NM_024537.4(CARS2):c.55C>T (p.Leu19=) rs2502284552
NM_024537.4(CARS2):c.57G>A (p.Leu19=) rs2139948102
NM_024537.4(CARS2):c.60C>G (p.Gly20=) rs2139948063
NM_024537.4(CARS2):c.99G>T (p.Ala33=) rs1449541513

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