ClinVar Miner

List of variants in gene VWF studied for von Willebrand disease type 3

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Gene type:
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Total variants: 245
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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.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.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
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.3789G>A (p.Ser1263=) rs199831474 0.00146
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.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
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.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
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.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 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.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.5791C>T (p.Gln1931Ter) rs1359172781 0.00001
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg) rs1943750562 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 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.8216G>A (p.Cys2739Tyr) rs61751305 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.1051del (p.Val351fs) rs2136470584
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.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1574G>A (p.Gly525Glu) rs2136455968
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.1729+3A>C rs2136455692
NM_000552.5(VWF):c.1839C>G (p.Cys613Trp)
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.1931_1945+5del rs2136454053
NM_000552.5(VWF):c.1945+1G>T rs2136454057
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
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.212C>A (p.Ser71Ter) rs62643619
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.2186+2T>C rs2136449402
NM_000552.5(VWF):c.220G>A (p.Gly74Arg) rs2136535320
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2282-2A>G rs2136440498
NM_000552.5(VWF):c.2282-42C>A rs216293
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.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp) rs2136440319
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.2442+5G>A
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2547-1G>C rs2136430750
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.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.310C>T (p.Gln104Ter) rs2136522699
NM_000552.5(VWF):c.3222+2dup rs2136420405
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.3379+2T>C rs2136418281
NM_000552.5(VWF):c.3406_3407del (p.Arg1136fs) rs2136417560
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.3675-1G>A rs746457842
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
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.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4470del (p.Lys1491fs) rs2136412494
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
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.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
NM_000552.5(VWF):c.4792G>T (p.Glu1598Ter) rs753701755
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter) rs2136411489
NM_000552.5(VWF):c.498C>A (p.Asn166Lys) rs2136521923
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
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.5170+1G>A rs764543553
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter) rs267607352
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.533-3C>G rs2136500500
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
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.592C>T (p.Gln198Ter) rs2136500386
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs) rs2136387598
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6188del (p.Pro2063fs) rs774210583
NM_000552.5(VWF):c.6227del (p.Thr2076fs) rs2136385937
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.6520T>G (p.Cys2174Gly) rs61750619
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser) rs2136385288
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6697G>A (p.Glu2233Lys) rs61750623
NM_000552.5(VWF):c.6798+2T>A
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg) rs2136376158
NM_000552.5(VWF):c.6901+1G>T rs111537486
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6963del (p.Glu2322fs) rs2136375523
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) rs1256082707
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7182T>G (p.Cys2394Trp) rs2136371247
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7287+1G>C rs1235191685
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs) rs1591838814
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
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.7514C>A (p.Ser2505Ter) rs2136358550
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_000552.5(VWF):c.7618del (p.Val2540fs) rs2136356178
NM_000552.5(VWF):c.7619T>A (p.Val2540Asp) rs150778949
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.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8155+1G>T rs1943194455
NM_000552.5(VWF):c.8155+3G>A rs61751304
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000552.5(VWF):c.8171G>A (p.Cys2724Tyr) rs2136336917
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.8323T>C (p.Ser2775Pro) rs2136336278
NM_000552.5(VWF):c.874+1G>A rs267607302

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