ClinVar Miner

List of variants in gene VWF reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
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.1463C>G (p.Ala488Gly) rs144817575 0.00098
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
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.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.7849C>A (p.Leu2617Met) rs371948517 0.00013
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) rs139864572 0.00005
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.1901C>T (p.Ala634Val) rs761282513 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys) rs369970893 0.00004
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) rs62643634 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.993C>A (p.Cys331Ter) rs147924974 0.00003
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser) rs765163545 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3251G>A (p.Cys1084Tyr) rs759805079 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 0.00001
NM_000552.5(VWF):c.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.1293+2T>C rs1591895879
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.182T>C (p.Leu61Pro) rs1306914162
NM_000552.5(VWF):c.1841C>T (p.Ser614Phe) rs776987924
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter) rs761288966
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.221-10_532+52del rs1591924188
NM_000552.5(VWF):c.221-1680_533-7312del
NM_000552.5(VWF):c.221-6_532+30del rs1591924208
NM_000552.5(VWF):c.221-977_532+7060del
NM_000552.5(VWF):c.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs) rs1591874316
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) rs1591870340
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.3314C>A (p.Ala1105Asp) rs1591866220
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
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.3675-1G>A rs746457842
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
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.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
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.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu) rs61750069
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.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4453del (p.Val1485fs) rs61750095
NM_000552.5(VWF):c.4473G>C (p.Lys1491Asn) rs1591862624
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
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.4727C>A (p.Thr1576Asn) rs1591862230
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.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg) rs61750610
NM_000552.5(VWF):c.5621-47_5842+51del rs1591857613
NM_000552.5(VWF):c.5849G>A (p.Cys1950Tyr) rs1591849732
NM_000552.5(VWF):c.6314C>T (p.Thr2105Ile) rs761604165
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) rs1591848387
NM_000552.5(VWF):c.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) rs111597150
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) rs1591838833
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) rs1591838814
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
NM_000552.5(VWF):c.7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.814G>C (p.Ala272Pro) rs747799959
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.8275A>G (p.Met2759Val) rs776211115
NM_000552.5(VWF):c.8307C>A (p.Asp2769Glu) rs1591826730

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