ClinVar Miner

List of variants in gene VWF studied for von Willebrand disease type 1

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Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_000552.5(VWF):c.6799-14C>T rs177702 0.76003
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000552.5(VWF):c.2546+25C>T rs216325 0.70354
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_000552.5(VWF):c.3222+31C>T rs73051263 0.29425
NM_000552.5(VWF):c.7082-7C>T rs216868 0.26357
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000552.5(VWF):c.998-27C>T rs55907031 0.16358
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_000552.5(VWF):c.657+11A>C rs7980045 0.10566
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_000552.5(VWF):c.3379+7A>C rs113446850 0.09700
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_000552.5(VWF):c.7288-19C>T rs3819540 0.08253
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000552.5(VWF):c.3539-33G>A rs148995386 0.04652
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.6938G>A (p.Arg2313His) rs62641242 0.00077
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.5665-9C>A rs201789774 0.00041
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
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.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
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.4580G>A (p.Arg1527Gln) rs780538558 0.00003
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000552.5(VWF):c.1497G>C (p.Gln499His) rs774725519 0.00001
NM_000552.5(VWF):c.2442+4A>G rs777608246 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 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.4277G>A (p.Arg1426His) rs761308466 0.00001
NM_000552.5(VWF):c.4492G>A (p.Asp1498Asn) rs1009808532 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu) rs1048674696 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.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1219A>C (p.Ser407Arg) rs2136463035
NM_000552.5(VWF):c.1318del (p.Cys440fs) rs2136462110
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.1562_1563delinsCT (p.Cys521Ser) rs1555198442
NM_000552.5(VWF):c.1594G>C (p.Gly532Arg)
NM_000552.5(VWF):c.1600G>A (p.Asp534Asn) rs1651544859
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.1916G>A (p.Arg639His) rs2136454101
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
NM_000552.5(VWF):c.1984G>A (p.Gly662Arg)
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.2174A>G (p.His725Arg) rs2136449433
NM_000552.5(VWF):c.2182A>G (p.Met728Val) rs1944527524
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2282-42C>A rs216293
NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)
NM_000552.5(VWF):c.22G>A (p.Gly8Arg)
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.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.2981G>T (p.Gly994Val) rs1591867991
NM_000552.5(VWF):c.3108+2T>G rs2136420816
NM_000552.5(VWF):c.3108+5G>C rs61748495
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
NM_000552.5(VWF):c.3163A>G (p.Met1055Val)
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.3286G>C (p.Asp1096His) rs748673885
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs) rs2136418339
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.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3688G>A (p.Val1230Ile) rs2136414039
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
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.3805_3806insT (p.Asp1269fs) rs2136413792
NM_000552.5(VWF):c.3806A>T (p.Asp1269Val) rs2136413788
NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu) rs2136413783
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
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.3946G>T (p.Val1316Leu)
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
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.4163A>G (p.Gln1388Arg) rs1944101095
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn) rs1800383
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4414del (p.Asp1472fs) rs2136412581
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4637T>A (p.Val1546Glu) rs1591862366
NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.4891G>A (p.Gly1631Ser)
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys) rs1944088119
NM_000552.5(VWF):c.4957del (p.Asp1653fs) rs2136411547
NM_000552.5(VWF):c.5029A>G (p.Ile1677Val) rs1242618824
NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5171-9del rs199893035
NM_000552.5(VWF):c.5198T>C (p.Leu1733Pro)
NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
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.5520dup (p.Gly1841fs) rs1591858979
NM_000552.5(VWF):c.5694G>C (p.Gln1898His) rs1218412177
NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile) rs2136403566
NM_000552.5(VWF):c.5746C>G (p.Arg1916Gly)
NM_000552.5(VWF):c.575C>T (p.Ala192Val) rs2136500405
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp) rs751433166
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys) rs1943786371
NM_000552.5(VWF):c.6136A>G (p.Ile2046Val) rs2136386032
NM_000552.5(VWF):c.6256+2dup rs1565822983
NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly) rs1397931528
NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser) rs2136385448
NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg) rs2136385431
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe) rs181987927
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr) rs2136382972
NM_000552.5(VWF):c.6768G>C (p.Gln2256His)
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
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.7114C>T (p.Pro2372Ser) rs2136371404
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala) rs2136371219
NM_000552.5(VWF):c.722T>G (p.Val241Gly) rs2136474453
NM_000552.5(VWF):c.7287+12T>G
NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys) rs2136358654
NM_000552.5(VWF):c.7519C>G (p.Arg2507Gly) rs368286307
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr) rs1258347142
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)
NM_000552.5(VWF):c.8116-2del rs2136338765
NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg) rs1443181806
NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr) rs2136336158
NM_000552.5(VWF):c.949del (p.Ile317fs) rs2136472072
NM_000552.5(VWF):c.960G>A (p.Met320Ile) rs2136472049

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