ClinVar Miner

List of variants in gene LAMP2 studied for Primary dilated cardiomyopathy

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.35_52del (p.Ser12_Val17del) rs2147294820
NM_002294.3(LAMP2):c.999del (p.Glu334fs) rs727504557

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