ClinVar Miner

List of variants in gene PLOD1 reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
NG_008159.1:g.(30134_30285)_(38781_39030)dup
NM_000302.3(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552
NM_000302.3(PLOD1):c.1594_1596del (p.Glu532del) rs797044446
NM_000302.3(PLOD1):c.1651-2delA rs797044447
NM_000302.3(PLOD1):c.1756_1902del
NM_000302.3(PLOD1):c.1836G>C (p.Trp612Cys) rs121913553
NM_000302.3(PLOD1):c.2008C>T (p.Arg670Ter) rs121913554
NM_000302.3(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000302.3(PLOD1):c.579+1G>A rs797044448
NM_000302.3(PLOD1):c.955C>T (p.Arg319Ter) rs121913550

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