ClinVar Miner

List of variants in gene PLOD1 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_000302.4(PLOD1):c.1097+1G>A rs1389548210
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.4(PLOD1):c.1651-2A>G rs565513365
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000302.4(PLOD1):c.583C>T (p.Gln195Ter) rs1553134578
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) rs121913550

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