ClinVar Miner

List of variants in gene CARS2 reported as likely benign for CARS2-related disorder

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00088
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_024537.4(CARS2):c.1074C>T (p.Ser358=) rs143638615 0.00024
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) rs200491395 0.00022
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00015
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) rs377120724 0.00014
NM_024537.4(CARS2):c.780C>T (p.Ile260=) rs145315422 0.00013
NM_024537.4(CARS2):c.753G>A (p.Pro251=) rs149601283 0.00007
NM_024537.4(CARS2):c.1194-3C>T rs372760421 0.00005
NM_024537.4(CARS2):c.1578C>T (p.Cys526=) rs547578192 0.00002
NM_024537.4(CARS2):c.1161C>T (p.Cys387=) rs772515282 0.00001
NM_024537.4(CARS2):c.1233A>C (p.Ala411=) rs1304133948 0.00001
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) rs575601185
NM_024537.4(CARS2):c.920-419T>A

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