ClinVar Miner

List of variants in gene combination CEP85L, PLN reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001
NM_002667.5(PLN):c.14A>G (p.Gln5Arg) rs876657954
NM_002667.5(PLN):c.152T>C (p.Leu51Pro) rs397516783
NM_002667.5(PLN):c.2T>C (p.Met1Thr) rs727503374
NM_002667.5(PLN):c.37dup (p.Arg13fs) rs727503375
NM_002667.5(PLN):c.43G>A (p.Ala15Thr) rs397516785
NM_002667.5(PLN):c.67C>G (p.Gln23Glu) rs876657955

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