ClinVar Miner

List of variants in gene VWF reported as uncertain significance for von Willebrand disease type 2

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2771G>A (p.Arg924Gln) rs33978901 0.01237
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.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
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.4021C>T (p.Arg1341Trp) rs61749402 0.00005
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.3320A>G (p.Tyr1107Cys) rs267607319 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.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.5192C>T (p.Ser1731Leu) rs764077750 0.00001
NM_000552.5(VWF):c.5453A>G (p.Asn1818Ser) rs61750608 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.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.1886A>C (p.Tyr629Ser)
NM_000552.5(VWF):c.2442+1G>A rs1944422617
NM_000552.5(VWF):c.2618C>T (p.Ala873Val)
NM_000552.5(VWF):c.2678T>G (p.Leu893Arg) rs2136430556
NM_000552.5(VWF):c.3247G>A (p.Val1083Ile)
NM_000552.5(VWF):c.3376T>C (p.Cys1126Arg)
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
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.3517T>C (p.Cys1173Arg)
NM_000552.5(VWF):c.3530G>A (p.Cys1177Tyr)
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
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.3847G>C (p.Asp1283His) rs1219290844
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.4213AAG[3] (p.Lys1408del) rs61750078
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.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.4960T>A (p.Phe1654Ile) rs2136411544
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
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

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