ClinVar Miner

List of variants in gene VWF reported as uncertain significance for von Willebrand disease type 3

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Total variants: 47
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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.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000552.5(VWF):c.7082-13G>C rs71581025 0.00108
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000552.5(VWF):c.4944del (p.Ile1649fs) rs61750591 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.874+2T>C rs1944829900 0.00002
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.1574G>A (p.Gly525Glu) rs2136455968
NM_000552.5(VWF):c.1729+3A>C rs2136455692
NM_000552.5(VWF):c.1839C>G (p.Cys613Trp)
NM_000552.5(VWF):c.1945+1G>T rs2136454057
NM_000552.5(VWF):c.2186+2T>C rs2136449402
NM_000552.5(VWF):c.220G>A (p.Gly74Arg) rs2136535320
NM_000552.5(VWF):c.2282-2A>G rs2136440498
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2442+5G>A
NM_000552.5(VWF):c.2547-1G>C rs2136430750
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3222+2dup rs2136420405
NM_000552.5(VWF):c.3379+2T>C rs2136418281
NM_000552.5(VWF):c.3406_3407del (p.Arg1136fs) rs2136417560
NM_000552.5(VWF):c.498C>A (p.Asn166Lys) rs2136521923
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.5146G>A (p.Ala1716Thr) rs1194776238
NM_000552.5(VWF):c.533-3C>G rs2136500500
NM_000552.5(VWF):c.5429C>A (p.Ala1810Glu) rs2136408307
NM_000552.5(VWF):c.5455+2T>C rs2136408262
NM_000552.5(VWF):c.5779T>C (p.Cys1927Arg) rs2136403498
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.6520T>G (p.Cys2174Gly) rs61750619
NM_000552.5(VWF):c.6697G>A (p.Glu2233Lys) rs61750623
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.6901+1G>T rs111537486
NM_000552.5(VWF):c.7182T>G (p.Cys2394Trp) rs2136371247
NM_000552.5(VWF):c.7287+1G>C rs1235191685
NM_000552.5(VWF):c.7405T>C (p.Ser2469Pro) rs61751287
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.7619T>A (p.Val2540Asp) rs150778949
NM_000552.5(VWF):c.8155+3G>A rs61751304
NM_000552.5(VWF):c.8171G>A (p.Cys2724Tyr) rs2136336917
NM_000552.5(VWF):c.8323T>C (p.Ser2775Pro) rs2136336278
NM_000552.5(VWF):c.874+1G>A rs267607302

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