ClinVar Miner

List of variants in gene PLOD3 reported as uncertain significance by GeneDx

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001084.5(PLOD3):c.335A>G (p.Asp112Gly) rs200949505 0.00046
NM_001084.5(PLOD3):c.703C>T (p.Arg235Trp) rs146134980 0.00029
NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg) rs377578690 0.00011
NM_001084.5(PLOD3):c.571G>A (p.Asp191Asn) rs143734860 0.00009
NM_001084.5(PLOD3):c.1781G>A (p.Arg594Gln) rs745986631 0.00006
NM_001084.5(PLOD3):c.1262A>G (p.His421Arg) rs779421418 0.00003
NM_001084.5(PLOD3):c.1180G>A (p.Asp394Asn) rs771549876 0.00002
NM_001084.5(PLOD3):c.560A>G (p.Asp187Gly) rs929219335 0.00001
NM_001084.5(PLOD3):c.1346A>G (p.Gln449Arg) rs2535167308
NM_001084.5(PLOD3):c.1818T>A (p.Asn606Lys)
NM_001084.5(PLOD3):c.2096_2097del (p.Val699fs) rs1268576956
NM_001084.5(PLOD3):c.401G>A (p.Ser134Asn)
NM_001084.5(PLOD3):c.410T>G (p.Leu137Arg)
NM_001084.5(PLOD3):c.568_570delinsAAT (p.Asp190Asn) rs2116810690
NM_001084.5(PLOD3):c.887C>A (p.Pro296His) rs143577626

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