ClinVar Miner

List of variants in gene CARS2, LOC130010127 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_024537.3(CARS2):c.-48C>T rs3818496 0.59027
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_024537.4(CARS2):c.122C>T (p.Ala41Val) rs371950209 0.00077
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) rs779385700 0.00012
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00010
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.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.33C>A (p.Gly11=) rs907423199 0.00003
NM_024537.4(CARS2):c.71C>T (p.Ala24Val) rs990590876 0.00003
NM_024537.4(CARS2):c.127C>T (p.Leu43=) rs1189964054 0.00002
NM_024537.4(CARS2):c.94C>G (p.Arg32Gly) rs924724206 0.00002
NM_024537.4(CARS2):c.101C>G (p.Ala34Gly) rs567317952 0.00001
NM_024537.4(CARS2):c.117G>A (p.Gly39=) rs1324528918 0.00001
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.150G>T (p.Thr50=) rs752758322 0.00001
NM_024537.4(CARS2):c.2T>G (p.Met1Arg) rs774110184 0.00001
NM_024537.4(CARS2):c.42G>T (p.Leu14=) rs1010589821 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.99G>T (p.Ala33=) rs1449541513 0.00001
NM_024537.4(CARS2):c.107G>C (p.Gly36Ala) rs1271844931
NM_024537.4(CARS2):c.107G>T (p.Gly36Val)
NM_024537.4(CARS2):c.108G>A (p.Gly36=)
NM_024537.4(CARS2):c.108G>C (p.Gly36=)
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.117G>T (p.Gly39=) rs1324528918
NM_024537.4(CARS2):c.118C>A (p.Arg40=) rs1426766304
NM_024537.4(CARS2):c.122C>A (p.Ala41Asp)
NM_024537.4(CARS2):c.12_33dup (p.Pro12fs) rs1415686449
NM_024537.4(CARS2):c.133C>A (p.Pro45Thr)
NM_024537.4(CARS2):c.141C>T (p.Gly47=) rs749408803
NM_024537.4(CARS2):c.143G>T (p.Arg48Leu)
NM_024537.4(CARS2):c.144G>A (p.Arg48=) rs2139947251
NM_024537.4(CARS2):c.149C>T (p.Thr50Met) rs756212584
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) rs1566366322
NM_024537.4(CARS2):c.160G>T (p.Val54Leu)
NM_024537.4(CARS2):c.164A>G (p.Tyr55Cys)
NM_024537.4(CARS2):c.19G>A (p.Gly7Ser)
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.24A>T (p.Pro8=) rs1398511016
NM_024537.4(CARS2):c.24_35del (p.Gly9_Pro12del)
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.30G>C (p.Leu10=)
NM_024537.4(CARS2):c.31G>T (p.Gly11Cys)
NM_024537.4(CARS2):c.33C>T (p.Gly11=) rs907423199
NM_024537.4(CARS2):c.37C>T (p.Pro13Ser)
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.48G>A (p.Gln16=) rs2139948147
NM_024537.4(CARS2):c.53C>T (p.Ala18Val)
NM_024537.4(CARS2):c.55C>T (p.Leu19=)
NM_024537.4(CARS2):c.57G>A (p.Leu19=) rs2139948102
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) rs2063949254
NM_024537.4(CARS2):c.60C>G (p.Gly20=)
NM_024537.4(CARS2):c.66G>C (p.Gly22=)
NM_024537.4(CARS2):c.68_71dup (p.His27fs)
NM_024537.4(CARS2):c.85C>T (p.Pro29Ser) rs934745570
NM_024537.4(CARS2):c.96G>A (p.Arg32=)
NM_024537.4(CARS2):c.98C>G (p.Ala33Gly) rs1566366752
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) rs1566366752

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