ClinVar Miner

List of variants reported as pathogenic for von Willebrand disease type 3 by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.311_312del (p.Gln104fs) rs1481396407 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter) rs1359172781 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
GRCh37/hg19 12p13.31(chr12:6127530-6233842)
NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del
NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del
NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
NC_000012.11:g.(6204751_6219539)_(6233842_?)del
NC_000012.11:g.(6220135_6230339)_(6233842_?)del
NC_000012.11:g.(?_6058180)_(6105389_6120781)del
NC_000012.11:g.(?_6058180)_(6233842_?)del
NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]
NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter) rs1250492485
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter) rs1321160729
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter) rs1381910966
NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer) rs2136455960
NM_000552.5(VWF):c.1659G>A (p.Trp553Ter) rs2136455808
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter) rs750364485
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.2018_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs) rs2136449605
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.229C>T (p.Gln77Ter) rs2136522827
NM_000552.5(VWF):c.2310del (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2310dup (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter) rs2136440291
NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs) rs2136440279
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter) rs746648486
NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer) rs2136440246
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter) rs2136426808
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter) rs1944232310
NM_000552.5(VWF):c.2965dup (p.Gln989fs) rs2136424529
NM_000552.5(VWF):c.310C>T (p.Gln104Ter) rs2136522699
NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs) rs2136418437
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter) rs2136418333
NM_000552.5(VWF):c.3771_3772del (p.Tyr1258fs) rs2136413869
NM_000552.5(VWF):c.3839_3849del (p.Phe1280fs) rs2136413727
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3940del (p.Val1314fs) rs2136413513
NM_000552.5(VWF):c.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.414_426del (p.Arg139fs) rs1312486904
NM_000552.5(VWF):c.4309del (p.Ala1437fs) rs2136412749
NM_000552.5(VWF):c.4570del (p.Glu1523_Val1524insTer) rs61750103
NM_000552.5(VWF):c.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter) rs753701755
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter) rs2136411489
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs) rs2136387598
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6188del (p.Pro2063fs) rs774210583
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter) rs2136385927
NM_000552.5(VWF):c.646G>T (p.Glu216Ter) rs767837153
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs) rs1591838814
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter) rs2136358550
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7618del (p.Val2540fs) rs2136356178
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.763_766del (p.Cys255fs) rs2136474390
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7729+7C>T rs61751301

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