ClinVar Miner

List of variants studied for von Willebrand disease type 3 by Laboratory of Hematology, Radboud University Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs) rs2136413727
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588

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