ClinVar Miner

List of variants reported as uncertain significance for Spondyloepimetaphyseal dysplasia by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002427.4(MMP13):c.374_376dup	rs886047556
NM_002427.4(MMP13):c.*849dup	rs886047552
NM_006182.4(DDR2):c.*171AC[1]	rs886045500
NM_006182.4(DDR2):c.*188del	rs5778295

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