ClinVar Miner

List of variants studied for von Willebrand disease type 2M

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383

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