ClinVar Miner

List of variants in gene VWF reported as pathogenic for von Willebrand disease type 1

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.4075G>A (p.Glu1359Lys) rs61749407 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1318del (p.Cys440fs) rs2136462110
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2547-13T>A rs2136430770
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg) rs2136430552
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.3108+2T>G rs2136420816
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.322A>T (p.Arg108Ter) rs2136522667
NM_000552.5(VWF):c.323+1G>T rs2136522662
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3762del (p.Thr1255fs) rs2136413887
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_000552.5(VWF):c.4957del (p.Asp1653fs) rs2136411547
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5458del (p.Arg1819_Val1820insTer) rs2136405765
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr) rs2136382972
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) rs111597150
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.8116-2del rs2136338765

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