ClinVar Miner

List of variants in gene PLOD3 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001084.5(PLOD3):c.1179C>T (p.Ala393=) rs11546152
NM_001084.5(PLOD3):c.1233-4G>A rs2301903
NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly) rs75592752
NM_001084.5(PLOD3):c.1678G>C (p.Glu560Gln) rs140879834
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser)
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819
NM_001084.5(PLOD3):c.1890T>G (p.Tyr630Ter) rs748105435
NM_001084.5(PLOD3):c.1935+105T>G rs186082235
NM_001084.5(PLOD3):c.1977C>T (p.Asp659=) rs11546151
NM_001084.5(PLOD3):c.1986G>A (p.Pro662=) rs117761436
NM_001084.5(PLOD3):c.2071del (p.Cys691fs) rs786205872
NM_001084.5(PLOD3):c.570C>T (p.Asp190=) rs35159414
NM_001084.5(PLOD3):c.668A>G (p.Asn223Ser) rs121434414
NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn)
NM_001084.5(PLOD3):c.809C>T (p.Pro270Leu) rs1562894320
NM_001084.5(PLOD3):c.887C>G (p.Pro296Arg) rs143577626

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