ClinVar Miner

List of variants in gene CARS2 reported by Ambry Genetics

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) rs150286306 0.00081
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) rs148857540 0.00015
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) rs777503937 0.00008
NM_024537.4(CARS2):c.1195C>T (p.Leu399Phe) rs202176952 0.00007
NM_024537.4(CARS2):c.1474C>T (p.Arg492Trp) rs200151026 0.00003
NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys) rs144664137 0.00002
NM_024537.4(CARS2):c.545G>A (p.Arg182His) rs769307767 0.00002
NM_024537.4(CARS2):c.671G>A (p.Arg224His) rs199589765 0.00002
NM_024537.4(CARS2):c.1135G>A (p.Ala379Thr) rs748825203 0.00001
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) rs746241006 0.00001
NM_024537.4(CARS2):c.1352G>A (p.Gly451Asp) rs1328163225 0.00001
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) rs143777330 0.00001
NM_024537.4(CARS2):c.1650G>A (p.Trp550Ter) rs1162839265 0.00001
NM_024537.4(CARS2):c.301C>G (p.Arg101Gly) rs777672253 0.00001
NM_024537.4(CARS2):c.871G>A (p.Glu291Lys) rs749694651 0.00001
NM_024537.4(CARS2):c.1048C>G (p.Arg350Gly) rs773231493
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
NM_024537.4(CARS2):c.1138T>C (p.Tyr380His) rs1888244220
NM_024537.4(CARS2):c.1223C>T (p.Ala408Val)
NM_024537.4(CARS2):c.1317G>C (p.Lys439Asn)
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) rs1555342802
NM_024537.4(CARS2):c.1399T>G (p.Ser467Ala)
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) rs192532265
NM_024537.4(CARS2):c.1576T>C (p.Cys526Arg)
NM_024537.4(CARS2):c.1658T>C (p.Leu553Pro)
NM_024537.4(CARS2):c.191C>A (p.Pro64His)
NM_024537.4(CARS2):c.342G>A (p.Met114Ile) rs139689196
NM_024537.4(CARS2):c.361G>A (p.Val121Ile)
NM_024537.4(CARS2):c.376A>G (p.Ile126Val) rs150341415
NM_024537.4(CARS2):c.476C>A (p.Pro159His)
NM_024537.4(CARS2):c.539T>A (p.Ile180Asn)
NM_024537.4(CARS2):c.553G>A (p.Ala185Thr)
NM_024537.4(CARS2):c.565G>A (p.Ala189Thr)
NM_024537.4(CARS2):c.586G>C (p.Asp196His)
NM_024537.4(CARS2):c.752C>G (p.Pro251Arg)
NM_024537.4(CARS2):c.826A>T (p.Ile276Leu)
NM_024537.4(CARS2):c.848A>G (p.His283Arg)

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