ClinVar Miner

List of variants in gene LAMP2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002294.3(LAMP2):c.519A>G (p.Val173=) rs1060504543 0.00003
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu) rs1921666685
NM_002294.3(LAMP2):c.183+5G>A rs730880479
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg) rs1200950486
NM_002294.3(LAMP2):c.397+6C>G rs1569371192
NM_002294.3(LAMP2):c.723G>A (p.Leu241=) rs1569369647
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser) rs1569369275

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