ClinVar Miner

List of variants in gene VWF studied for coagulation protein disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP
NM_000552.4(VWF):c.-107C>G rs886049747
NM_000552.4(VWF):c.-131G>C rs886049748
NM_000552.4(VWF):c.-72C>T rs886049746
NM_000552.4(VWF):c.1001G>A (p.Gly334Glu)
NM_000552.4(VWF):c.1051G>A (p.Val351Met) rs535978867
NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.4(VWF):c.1077C>T (p.Pro359=) rs71582884
NM_000552.4(VWF):c.1142A>G (p.Asn381Ser) rs886049745
NM_000552.4(VWF):c.114C>T (p.Phe38=) rs2229443
NM_000552.4(VWF):c.1173A>T (p.Thr391=) rs1800375
NM_000552.4(VWF):c.1182A>C (p.Ser394=) rs1800376
NM_000552.4(VWF):c.1293+2T>C
NM_000552.4(VWF):c.1339del (p.Arg447fs)
NM_000552.4(VWF):c.1411G>A (p.Val471Ile) rs1800377
NM_000552.4(VWF):c.1433-10T>C rs66722092
NM_000552.4(VWF):c.1451A>G (p.His484Arg) rs1800378
NM_000552.4(VWF):c.1463C>G (p.Ala488Gly)
NM_000552.4(VWF):c.1514G>A (p.Arg505His)
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.4(VWF):c.1596C>T (p.Gly532=) rs111240043
NM_000552.4(VWF):c.1607T>C (p.Leu536Pro)
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1626G>A (p.Ala542=) rs35365059
NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.4(VWF):c.1728G>T (p.Met576Ile) rs150146744
NM_000552.4(VWF):c.1730-18_1730-12del rs756282321
NM_000552.4(VWF):c.1730-5C>T rs569984866
NM_000552.4(VWF):c.1752C>T (p.Cys584=) rs748584672
NM_000552.4(VWF):c.1794C>T (p.Ala598=) rs35302737
NM_000552.4(VWF):c.182T>C (p.Leu61Pro)
NM_000552.4(VWF):c.1841C>T (p.Ser614Phe)
NM_000552.4(VWF):c.1862G>C (p.Cys621Ser) rs886049744
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.1945+15T>A rs71582861
NM_000552.4(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.4(VWF):c.1974C>G (p.Tyr658Ter)
NM_000552.4(VWF):c.2025G>A (p.Pro675=) rs779045480
NM_000552.4(VWF):c.2060G>A (p.Cys687Tyr)
NM_000552.4(VWF):c.2103C>T (p.Cys701=) rs78995469
NM_000552.4(VWF):c.221-10_532+52del
NM_000552.4(VWF):c.221-6_532+30del
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2279G>A (p.Arg760His) rs61748467
NM_000552.4(VWF):c.2281+13C>T rs183077797
NM_000552.4(VWF):c.2289G>A (p.Arg763=) rs886049743
NM_000552.4(VWF):c.2299T>C (p.Cys767Arg)
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2372C>T (p.Thr791Met) rs61748477
NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.4(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.4(VWF):c.2443-1G>C rs61748480
NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) rs121964894
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.250C>T (p.Leu84Phe) rs372664002
NM_000552.4(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.4(VWF):c.2547-5C>T rs373203368
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.2570A>G (p.Asn857Ser) rs765163545
NM_000552.4(VWF):c.2649_2650insTTTG (p.Leu884fs)
NM_000552.4(VWF):c.2686-7T>G
NM_000552.4(VWF):c.2880G>A (p.Arg960=) rs1800380
NM_000552.4(VWF):c.2921G>A (p.Trp974Ter)
NM_000552.4(VWF):c.2981G>A (p.Gly994Asp)
NM_000552.4(VWF):c.3108+5G>A rs61748495
NM_000552.4(VWF):c.3162G>C (p.Thr1054=) rs754421736
NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3251G>A (p.Cys1084Tyr)
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.4(VWF):c.3379+12C>T rs374393996
NM_000552.4(VWF):c.3379+13G>A rs2885752
NM_000552.4(VWF):c.3379+1G>A rs2363337
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3390C>T (p.Cys1130=)
NM_000552.4(VWF):c.3414C>T (p.Asn1138=) rs560397436
NM_000552.4(VWF):c.3426T>C (p.Cys1142=) rs535693463
NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.4(VWF):c.3485C>T (p.Pro1162Leu) rs566672558
NM_000552.4(VWF):c.3486A>G (p.Pro1162=) rs546732699
NM_000552.4(VWF):c.3538+6G>T rs886049742
NM_000552.4(VWF):c.3539-15A>G rs748934603
NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.4(VWF):c.3569G>A (p.Cys1190Tyr)
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3613C>T (p.Arg1205Cys) rs373787920
NM_000552.4(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.4(VWF):c.3675-1G>A
NM_000552.4(VWF):c.3719C>T (p.Pro1240Leu) rs150576611
NM_000552.4(VWF):c.3720G>A (p.Pro1240=) rs141792415
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.4(VWF):c.3835G>A (p.Val1279Ile) rs61749376
NM_000552.4(VWF):c.3842T>C (p.Leu1281Pro)
NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.4(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.4(VWF):c.390C>T (p.Ser130=) rs2229444
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.391G>A (p.Gly131Ser) rs76505074
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.4(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.4(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.4(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.4(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.4(VWF):c.3952G>A (p.Val1318Met) rs372028373
NM_000552.4(VWF):c.3962A>G (p.Tyr1321Cys)
NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) rs61749398
NM_000552.4(VWF):c.4007G>A (p.Arg1336Gln) rs886049741
NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.4(VWF):c.4027A>G (p.Ile1343Val) rs150923481
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.4(VWF):c.4103T>C (p.Ile1368Thr) rs199675425
NM_000552.4(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.4(VWF):c.4105T>C (p.Phe1369Leu)
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.4(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys) rs61750074
NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4146G>T (p.Leu1382=)
NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) rs61750077
NM_000552.4(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.4(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.435C>G (p.Asn145Lys)
NM_000552.4(VWF):c.4360G>A (p.Val1454Ile)
NM_000552.4(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.4(VWF):c.4457C>T (p.Ser1486Leu)
NM_000552.4(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.4(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.4(VWF):c.4622A>G (p.Gln1541Arg)
NM_000552.4(VWF):c.4637T>G (p.Val1546Gly)
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)
NM_000552.4(VWF):c.4665A>C (p.Ala1555=) rs1800384
NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) rs1800385
NM_000552.4(VWF):c.4727C>A (p.Thr1576Asn)
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.4(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.4(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.4(VWF):c.4834G>C (p.Ala1612Pro)
NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.4(VWF):c.4931G>A (p.Trp1644Ter)
NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) rs61750595
NM_000552.4(VWF):c.5049A>C (p.Ala1683=) rs79275181
NM_000552.4(VWF):c.50dup (p.Leu17fs)
NM_000552.4(VWF):c.5170+5G>A
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.5277C>T (p.Asp1759=) rs41276736
NM_000552.4(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.4(VWF):c.533-48_657+52del
NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) rs267607353
NM_000552.4(VWF):c.5369C>T (p.Pro1790Leu) rs551649729
NM_000552.4(VWF):c.5471C>G (p.Pro1824Arg)
NM_000552.4(VWF):c.5493C>T (p.Tyr1831=) rs769268109
NM_000552.4(VWF):c.55+8C>A rs114713980
NM_000552.4(VWF):c.5533G>A (p.Asp1845Asn) rs201548925
NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) rs61750612
NM_000552.4(VWF):c.5620+10A>G rs886049740
NM_000552.4(VWF):c.5621-47_5842+51del
NM_000552.4(VWF):c.5664+15G>A rs7961539
NM_000552.4(VWF):c.5667C>T (p.Pro1889=) rs56981471
NM_000552.4(VWF):c.5668G>A (p.Gly1890Arg)
NM_000552.4(VWF):c.5785A>T (p.Asn1929Tyr) rs149799233
NM_000552.4(VWF):c.5801T>G (p.Val1934Gly)
NM_000552.4(VWF):c.5844C>T (p.Cys1948=) rs216902
NM_000552.4(VWF):c.5849G>A (p.Cys1950Tyr)
NM_000552.4(VWF):c.5851A>G (p.Thr1951Ala) rs144072210
NM_000552.4(VWF):c.5876T>G (p.Val1959Gly) rs886049739
NM_000552.4(VWF):c.6043G>A (p.Glu2015Lys) rs775806908
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000552.4(VWF):c.6196A>G (p.Asn2066Asp) rs886049738
NM_000552.4(VWF):c.6314C>T (p.Thr2105Ile)
NM_000552.4(VWF):c.6345T>A (p.Thr2115=) rs11537642
NM_000552.4(VWF):c.6421G>A (p.Val2141Ile)
NM_000552.4(VWF):c.6433C>T (p.Pro2145Ser) rs61750618
NM_000552.4(VWF):c.6488G>A (p.Cys2163Tyr)
NM_000552.4(VWF):c.6538T>C (p.Tyr2180His)
NM_000552.4(VWF):c.6554G>A (p.Arg2185Gln) rs2229446
NM_000552.4(VWF):c.657+11A>C rs7980045
NM_000552.4(VWF):c.6572T>C (p.Val2191Ala) rs753731128
NM_000552.4(VWF):c.658-3C>A
NM_000552.4(VWF):c.6611C>T (p.Pro2204Leu) rs777556669
NM_000552.4(VWF):c.6756G>A (p.Glu2252=) rs71581020
NM_000552.4(VWF):c.6762C>G (p.Cys2254Trp)
NM_000552.4(VWF):c.6798+13G>A rs201509264
NM_000552.4(VWF):c.6798+14C>T rs7315124
NM_000552.4(VWF):c.6798+1G>T rs61750624
NM_000552.4(VWF):c.6798+5G>A
NM_000552.4(VWF):c.6798+6A>G
NM_000552.4(VWF):c.6799-14C>T rs177702
NM_000552.4(VWF):c.6846A>G (p.Thr2282=) rs1053523
NM_000552.4(VWF):c.6859C>T (p.Arg2287Trp) rs61750625
NM_000552.4(VWF):c.6902-5T>A rs112046757
NM_000552.4(VWF):c.6908C>T (p.Thr2303Met) rs149432685
NM_000552.4(VWF):c.6931C>T (p.Arg2311Cys) rs150725355
NM_000552.4(VWF):c.6976+11C>T rs751395078
NM_000552.4(VWF):c.7007C>T (p.Pro2336Leu) rs144769404
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504
NM_000552.4(VWF):c.7082-13G>C rs71581025
NM_000552.4(VWF):c.7082-7C>T rs216868
NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.4(VWF):c.7135C>T (p.Arg2379Cys) rs61751283
NM_000552.4(VWF):c.7239T>C (p.Thr2413=) rs216867
NM_000552.4(VWF):c.7240G>A (p.Ala2414Thr) rs754853953
NM_000552.4(VWF):c.7252_7253TG[1] (p.Cys2418fs)
NM_000552.4(VWF):c.7352G>A (p.Cys2451Tyr)
NM_000552.4(VWF):c.7360_7376del (p.Thr2454fs)
NM_000552.4(VWF):c.7362C>T (p.Thr2454=) rs146504585
NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) rs61751286
NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter)
NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) rs61751288
NM_000552.4(VWF):c.7429T>C (p.Cys2477Arg)
NM_000552.4(VWF):c.7450G>A (p.Val2484Ile)
NM_000552.4(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.4(VWF):c.7493C>A (p.Ala2498Asp)
NM_000552.4(VWF):c.7525del (p.Asp2509fs)
NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) rs61751296
NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161
NM_000552.4(VWF):c.7698G>A (p.Lys2566=) rs16932285
NM_000552.4(VWF):c.7729+8A>G rs775123891
NM_000552.4(VWF):c.7730-1G>T
NM_000552.4(VWF):c.7730-4C>G rs71581030
NM_000552.4(VWF):c.7732C>T (p.Arg2578Cys)
NM_000552.4(VWF):c.7771-13C>T rs11063962
NM_000552.4(VWF):c.7790T>A (p.Ile2597Asn) rs886049737
NM_000552.4(VWF):c.7800C>T (p.Cys2600=) rs200209213
NM_000552.4(VWF):c.7863del (p.Thr2622fs)
NM_000552.4(VWF):c.7887+12T>C rs55687637
NM_000552.4(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.4(VWF):c.792del (p.Cys265fs) rs1565853894
NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) rs61751302
NM_000552.4(VWF):c.7947C>T (p.Cys2649=) rs748907832
NM_000552.4(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.4(VWF):c.7997C>T (p.Thr2666Met) rs78353028
NM_000552.4(VWF):c.8052C>A (p.Tyr2684Ter) rs1565806829
NM_000552.4(VWF):c.8096A>G (p.His2699Arg) rs886049736
NM_000552.4(VWF):c.8113G>A (p.Gly2705Arg) rs7962217
NM_000552.4(VWF):c.814G>C (p.Ala272Pro)
NM_000552.4(VWF):c.8155+8C>T rs886049735
NM_000552.4(VWF):c.8160G>A (p.Glu2720=) rs368802960
NM_000552.4(VWF):c.8215T>C (p.Cys2739Arg)
NM_000552.4(VWF):c.8275A>G (p.Met2759Val)
NM_000552.4(VWF):c.8276T>C (p.Met2759Thr)
NM_000552.4(VWF):c.8307C>A (p.Asp2769Glu)
NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.4(VWF):c.8366C>G (p.Thr2789Ser) rs371036946
NM_000552.4(VWF):c.858C>T (p.Thr286=) rs776206258
NM_000552.4(VWF):c.954T>A (p.Asn318Lys) rs1800387
NM_000552.4(VWF):c.993C>A (p.Cys331Ter)
VWF, 6-BP INS, NT1212
VWF, 8.6-KB DEL, EX4-5
VWF, TRP1745CYS

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