ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
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.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.7135C>T (p.Arg2379Cys) rs61751283 0.00006
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.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 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.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000552.5(VWF):c.1001G>A (p.Gly334Glu) rs932134873 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.4360G>A (p.Val1454Ile) rs533417176 0.00001
NM_000552.5(VWF):c.5668G>A (p.Gly1890Arg) rs746837624 0.00001
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.2299T>C (p.Cys767Arg) rs1591880825
NM_000552.5(VWF):c.2686-7T>G rs1591871882
NM_000552.5(VWF):c.2981G>A (p.Gly994Asp) rs1591867991
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4473G>C (p.Lys1491Asn) rs1591862624
NM_000552.5(VWF):c.4622A>G (p.Gln1541Arg) rs1591862393
NM_000552.5(VWF):c.4727C>A (p.Thr1576Asn) rs1591862230
NM_000552.5(VWF):c.4834G>C (p.Ala1612Pro) rs1591862118
NM_000552.5(VWF):c.5170+5G>A rs1591860863
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.6538T>C (p.Tyr2180His) rs1591848338
NM_000552.5(VWF):c.6762C>G (p.Cys2254Trp) rs1232884671
NM_000552.5(VWF):c.6798+5G>A rs1591847103
NM_000552.5(VWF):c.6798+6A>G rs1591847100
NM_000552.5(VWF):c.7429T>C (p.Cys2477Arg) rs1591838774
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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