ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00011
NM_024537.4(CARS2):c.37C>G (p.Pro13Ala) rs1044669719 0.00005
NM_024537.4(CARS2):c.170G>C (p.Ser57Thr) rs896892259 0.00004
NM_024537.4(CARS2):c.10A>T (p.Thr4Ser) rs1037184355 0.00003
NM_024537.4(CARS2):c.71C>T (p.Ala24Val) rs990590876 0.00003
NM_024537.4(CARS2):c.94C>G (p.Arg32Gly) rs924724206 0.00003
NM_024537.4(CARS2):c.101C>G (p.Ala34Gly) rs567317952 0.00002
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322 0.00002
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) rs916018424 0.00001
NM_024537.4(CARS2):c.126G>C (p.Trp42Cys) rs1019467802 0.00001
NM_024537.4(CARS2):c.149C>T (p.Thr50Met) rs756212584 0.00001
NM_024537.4(CARS2):c.19G>A (p.Gly7Ser) rs1352421697 0.00001
NM_024537.4(CARS2):c.2T>G (p.Met1Arg) rs774110184 0.00001
NM_024537.4(CARS2):c.53C>T (p.Ala18Val) rs1295368394 0.00001
NM_024537.4(CARS2):c.73G>A (p.Gly25Arg) rs1390223276 0.00001
NM_024537.4(CARS2):c.84G>T (p.Trp28Cys) rs1388391654 0.00001
NM_024537.4(CARS2):c.107G>C (p.Gly36Ala) rs1271844931
NM_024537.4(CARS2):c.107G>T (p.Gly36Val) rs1271844931
NM_024537.4(CARS2):c.10A>G (p.Thr4Ala) rs1037184355
NM_024537.4(CARS2):c.112C>T (p.Arg38Cys) rs776199362
NM_024537.4(CARS2):c.115G>T (p.Gly39Trp) rs1330266756
NM_024537.4(CARS2):c.122C>A (p.Ala41Asp) rs371950209
NM_024537.4(CARS2):c.12_33dup (p.Pro12fs) rs1415686449
NM_024537.4(CARS2):c.133C>A (p.Pro45Thr) rs2502282655
NM_024537.4(CARS2):c.143G>T (p.Arg48Leu) rs867920270
NM_024537.4(CARS2):c.160G>T (p.Val54Leu) rs995604231
NM_024537.4(CARS2):c.164A>G (p.Tyr55Cys) rs2502281908
NM_024537.4(CARS2):c.1A>G (p.Met1Val) rs1456556476
NM_024537.4(CARS2):c.1A>T (p.Met1Leu) rs1456556476
NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del) rs2502285251
NM_024537.4(CARS2):c.25G>C (p.Gly9Arg) rs1465681823
NM_024537.4(CARS2):c.27C>T (p.Gly9=) rs1270397975
NM_024537.4(CARS2):c.29T>C (p.Leu10Pro) rs1326381296
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) rs774110184
NM_024537.4(CARS2):c.31G>T (p.Gly11Cys) rs1283128812
NM_024537.4(CARS2):c.37C>T (p.Pro13Ser) rs1044669719
NM_024537.4(CARS2):c.38C>T (p.Pro13Leu) rs948688494
NM_024537.4(CARS2):c.38del (p.Pro13fs) rs1412483498
NM_024537.4(CARS2):c.3G>T (p.Met1Ile) rs2139948769
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.65G>A (p.Gly22Glu)
NM_024537.4(CARS2):c.68_71dup (p.His27fs) rs2502284114
NM_024537.4(CARS2):c.85C>T (p.Pro29Ser) rs934745570
NM_024537.4(CARS2):c.98C>G (p.Ala33Gly) rs1566366752
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) rs1566366752

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