ClinVar Miner

List of variants studied for Spondyloepimetaphyseal dysplasia, Genevieve type by Department of Pediatrics, Hamamatsu University School of Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018946.4(NANS):c.607T>C (p.Tyr203His) rs745594354 0.00001
NM_018946.4(NANS):c.133-12T>A rs1828949796
NM_018946.4(NANS):c.207del (p.Arg69fs) rs2131619700

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