ClinVar Miner

List of variants in gene CARS1 reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001014437.3(CARS1):c.1887C>T (p.Asn629=) rs35416419 0.01335
NM_001014437.3(CARS1):c.848C>G (p.Ser283Cys) rs141256158 0.00842
NM_001014437.3(CARS1):c.853C>T (p.Leu285Phe) rs148335154 0.00815
NM_001014437.3(CARS1):c.687C>T (p.Pro229=) rs3205318 0.00765
NM_001014437.3(CARS1):c.1663G>A (p.Ala555Thr) rs61737267 0.00665
NM_001014437.3(CARS1):c.585C>T (p.Phe195=) rs61737271 0.00644
NM_001014437.3(CARS1):c.275-8C>T rs116083217 0.00625
NM_001014437.3(CARS1):c.1024G>A (p.Gly342Ser) rs117234242 0.00536
NM_001014437.3(CARS1):c.1509C>T (p.Ala503=) rs80041195 0.00237
NM_001014437.3(CARS1):c.651+3G>A rs149456532 0.00225
NM_001014437.3(CARS1):c.1962C>T (p.Val654=) rs1321274329 0.00001
NM_001014437.3(CARS1):c.1890C>A (p.Ile630=) rs61737274
NM_001014437.3(CARS1):c.721G>T (p.Ala241Ser) rs12796489

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