ClinVar Miner

List of variants studied for von Willebrand disease type 2

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Total variants: 214
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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.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.6187C>T (p.Pro2063Ser) rs61750615 0.00437
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.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.4443G>T (p.Gly1481=) rs144796763 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
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.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.4748G>A (p.Arg1583Gln) rs538030800 0.00011
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.7393G>A (p.Val2465Met) rs375655409 0.00010
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.6421G>A (p.Val2141Ile) rs923531708 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.5192C>T (p.Ser1731Leu) rs764077750 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NC_000012.12:g.6019283_6019313delins[NC_000022.11:g.16697696_16697726]
NC_000012.12:g.6019283_6019339delins[NC_000022.11:g.16697696_16697856]
NC_000012.12:g.6019283_6019391delins[NC_000022.11:g.16697696_16697804]
NC_000012.12:g.6019583_6019621delins[NC_000022.11:g.16697996_16698034]
NC_000012.12:g.6019583_6019629delins[NC_000022.11:g.16697996_16698042]
NC_000012.12:g.6019583_6019732delins[NC_000022.11:g.16697996_16698145]
NC_000012.12:g.6019621_6019629delins[NC_000022.11:g.16698034_16698042]
NC_000012.12:g.6019621_6019683delins[NC_000022.11:g.16698034_16698096]
NC_000012.12:g.6019621_6019732delins[NC_000022.11:g.16698034_16698145]
NM_000552.5(VWF):c.1-10T>A
NM_000552.5(VWF):c.1092_1093del (p.Asp366fs) rs2136470486
NM_000552.5(VWF):c.1311C>A (p.Asp437Glu)
NM_000552.5(VWF):c.1339C>T (p.Arg447Trp)
NM_000552.5(VWF):c.148A>G (p.Met50Val) rs2136535487
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg) rs2136455744
NM_000552.5(VWF):c.1886A>C (p.Tyr629Ser)
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2282-42C>A rs216293
NM_000552.5(VWF):c.2442+1G>A rs1944422617
NM_000552.5(VWF):c.2546+3G>C rs1565838728
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr) rs772796741
NM_000552.5(VWF):c.2618C>T (p.Ala873Val)
NM_000552.5(VWF):c.2678T>G (p.Leu893Arg) rs2136430556
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000552.5(VWF):c.3380-2A>G rs2136417619
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3425G>T (p.Cys1142Phe) rs2136417522
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.3515G>T (p.Gly1172Val) rs1555195293
NM_000552.5(VWF):c.3517T>C (p.Cys1173Arg)
NM_000552.5(VWF):c.3530G>A (p.Cys1177Tyr)
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
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.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3833T>C (p.Leu1278Pro) rs2136413762
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3842T>G (p.Leu1281Arg) rs1591863438
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.3847G>C (p.Asp1283His) rs1219290844
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro) rs2136413535
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys) rs1591863294
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4265T>G (p.Leu1422Arg) rs2136412830
NM_000552.5(VWF):c.4277G>C (p.Arg1426Pro) rs761308466
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg) rs2136412350
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del) rs2136412203
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys) rs2136412168
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly) rs1591862366
NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer) rs1591862342
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn) rs2136411988
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn) rs61750584
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4960T>A (p.Phe1654Ile) rs2136411544
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro) rs61750593
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5338T>A (p.Tyr1780Asn) rs372002214
NM_000552.5(VWF):c.5459T>A (p.Val1820Glu) rs2136405756
NM_000552.5(VWF):c.571T>G (p.Trp191Gly) rs2136500414
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.7729+5G>A
NM_000552.5(VWF):c.7730-3C>G
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998

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