ClinVar Miner

List of variants in gene LAMP2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.*2678G>A rs775547188 0.00006
NM_002294.3(LAMP2):c.*2771A>G rs747304113 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_002294.3(LAMP2):c.*2755G>C rs1274595954 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002294.3(LAMP2):c.398-5T>C rs1460188868 0.00001
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858

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