ClinVar Miner

List of variants in gene combination LOC129389144, PLOD2 reported by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_182943.3(PLOD2):c.502+24G>A rs115816505 0.00714
NM_182943.3(PLOD2):c.439G>C (p.Asp147His) rs147440183 0.00001

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