ClinVar Miner

List of variants reported as benign for Bone fragility with contractures, arterial rupture, and deafness by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001084.5(PLOD3):c.1233-4G>A rs2301903 0.05322
NM_001084.5(PLOD3):c.570C>T (p.Asp190=) rs35159414 0.02885
NM_001084.5(PLOD3):c.1977C>T (p.Asp659=) rs11546151 0.01458
NM_001084.5(PLOD3):c.1179C>T (p.Ala393=) rs11546152 0.00779
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819 0.00393
NM_001084.5(PLOD3):c.1986G>A (p.Pro662=) rs117761436 0.00136
NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly) rs75592752

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