ClinVar Miner

List of variants in gene PLOD1 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.33232
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.13670
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04396
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00029
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00018
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=) rs543980683 0.00004
NM_000302.4(PLOD1):c.570G>A (p.Pro190=) rs776173072 0.00002
NM_000302.4(PLOD1):c.1663G>A (p.Val555Ile)
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.741+174G>A rs1414179236

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