ClinVar Miner

List of variants in gene VWF reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.114C>T (p.Phe38=) rs2229443 0.00241
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=) rs55784921 0.00132
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.7344C>T (p.Cys2448=) rs55944252 0.00046
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr) rs71579338 0.00025
NM_000552.5(VWF):c.5533G>A (p.Asp1845Asn) rs201548925 0.00012

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