ClinVar Miner

List of variants in gene CAV1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_001753.5(CAV1):c.463G>A (p.Val155Ile) rs150368249 0.00057
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001753.5(CAV1):c.54C>G (p.Ile18Met) rs150051547 0.00020
NM_001753.5(CAV1):c.30+16G>A rs148066554
NM_001753.5(CAV1):c.30+19dup rs749316760

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