ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylocheirodysplastic type by Revvity Omics, Revvity

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00011
NM_001128225.3(SLC39A13):c.-9+256T>C rs2495913148
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys) rs2496019254

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