ClinVar Miner

List of variants in gene PLOD1 reported as likely benign for Ehlers-Danlos syndrome, hydroxylysine-deficient

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Total variants: 26
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HGVS dbSNP
NM_000302.4(PLOD1):c.*440G>C rs11553681
NM_000302.4(PLOD1):c.*71C>G rs2230899
NM_000302.4(PLOD1):c.1083C>T (p.Ala361=) rs1159010003
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.135G>A (p.Lys45=) rs765354146
NM_000302.4(PLOD1):c.1530C>T (p.Ser510=) rs1025133534
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642
NM_000302.4(PLOD1):c.1608C>T (p.His536=) rs138289419
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.4(PLOD1):c.1651-10C>T rs755961387
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.4(PLOD1):c.1903-14dup
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.4(PLOD1):c.243G>A (p.Leu81=) rs371574381
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.4(PLOD1):c.302+15G>A rs140227667
NM_000302.4(PLOD1):c.30G>C (p.Leu10=) rs886039113
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.678G>A (p.Val226=) rs371007185
NM_000302.4(PLOD1):c.77-7T>C rs371488160
NM_000302.4(PLOD1):c.774G>A (p.Pro258=) rs753994916
NM_000302.4(PLOD1):c.789C>T (p.Phe263=) rs908800499
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.4(PLOD1):c.951C>T (p.His317=) rs770032875

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