ClinVar Miner

List of variants in gene VWF reported as likely pathogenic for coagulation protein disease

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_000552.4(VWF):c.1293+2T>C
NM_000552.4(VWF):c.1339del (p.Arg447fs)
NM_000552.4(VWF):c.1607T>C (p.Leu536Pro)
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.1974C>G (p.Tyr658Ter)
NM_000552.4(VWF):c.2060G>A (p.Cys687Tyr)
NM_000552.4(VWF):c.221-6_532+30del
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.2443-1G>C rs61748480
NM_000552.4(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.4(VWF):c.2649_2650insTTTG (p.Leu884fs)
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.4(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.4(VWF):c.3390C>T (p.Cys1130=)
NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.4(VWF):c.3569G>A (p.Cys1190Tyr)
NM_000552.4(VWF):c.3613C>T (p.Arg1205Cys) rs373787920
NM_000552.4(VWF):c.3675-1G>A
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.4(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.4(VWF):c.3962A>G (p.Tyr1321Cys)
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
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.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.449T>C (p.Leu150Pro) rs61753994
NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.4(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.4(VWF):c.4637T>G (p.Val1546Gly)
NM_000552.4(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)
NM_000552.4(VWF):c.4931G>A (p.Trp1644Ter)
NM_000552.4(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.4(VWF):c.533-48_657+52del
NM_000552.4(VWF):c.5471C>G (p.Pro1824Arg)
NM_000552.4(VWF):c.5801T>G (p.Val1934Gly)
NM_000552.4(VWF):c.6488G>A (p.Cys2163Tyr)
NM_000552.4(VWF):c.658-3C>A
NM_000552.4(VWF):c.6798+1G>T rs61750624
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504
NM_000552.4(VWF):c.7352G>A (p.Cys2451Tyr)
NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter)
NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) rs61751288
NM_000552.4(VWF):c.7450G>A (p.Val2484Ile)
NM_000552.4(VWF):c.7493C>A (p.Ala2498Asp)
NM_000552.4(VWF):c.7525del (p.Asp2509fs)
NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.4(VWF):c.7730-1G>T
NM_000552.4(VWF):c.7732C>T (p.Arg2578Cys)
NM_000552.4(VWF):c.7863del (p.Thr2622fs)
NM_000552.4(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.4(VWF):c.993C>A (p.Cys331Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.