ClinVar Miner

List of variants studied for Rauch-Steindl syndrome by MVZ Medizinische Genetik Mainz

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001042424.3(NSD2):c.-29-2A>G rs2474213584
NM_001042424.3(NSD2):c.3277G>T (p.Val1093Phe) rs1440755101
NM_001042424.3(NSD2):c.3338A>G (p.Asp1113Gly)

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