ClinVar Miner

List of variants in gene VWF reported as uncertain significance for von Willebrand disease type 1

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Total variants: 87
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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.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000552.5(VWF):c.6938G>A (p.Arg2313His) rs62641242 0.00077
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
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.5665-9C>A rs201789774 0.00041
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_000552.5(VWF):c.1497G>C (p.Gln499His) rs774725519 0.00001
NM_000552.5(VWF):c.2442+4A>G rs777608246 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.4277G>A (p.Arg1426His) rs761308466 0.00001
NM_000552.5(VWF):c.4492G>A (p.Asp1498Asn) rs1009808532 0.00001
NM_000552.5(VWF):c.5765G>A (p.Gly1922Glu) rs1048674696 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.1219A>C (p.Ser407Arg) rs2136463035
NM_000552.5(VWF):c.1562_1563delinsCT (p.Cys521Ser) rs1555198442
NM_000552.5(VWF):c.1594G>C (p.Gly532Arg)
NM_000552.5(VWF):c.1600G>A (p.Asp534Asn) rs1651544859
NM_000552.5(VWF):c.1916G>A (p.Arg639His) rs2136454101
NM_000552.5(VWF):c.1984G>A (p.Gly662Arg)
NM_000552.5(VWF):c.2174A>G (p.His725Arg) rs2136449433
NM_000552.5(VWF):c.2182A>G (p.Met728Val) rs1944527524
NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)
NM_000552.5(VWF):c.22G>A (p.Gly8Arg)
NM_000552.5(VWF):c.270A>C (p.Glu90Asp)
NM_000552.5(VWF):c.2981G>T (p.Gly994Val) rs1591867991
NM_000552.5(VWF):c.3108+5G>C rs61748495
NM_000552.5(VWF):c.3163A>G (p.Met1055Val)
NM_000552.5(VWF):c.3286G>C (p.Asp1096His) rs748673885
NM_000552.5(VWF):c.3688G>A (p.Val1230Ile) rs2136414039
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
NM_000552.5(VWF):c.3806A>T (p.Asp1269Val) rs2136413788
NM_000552.5(VWF):c.3807T>A (p.Asp1269Glu) rs2136413783
NM_000552.5(VWF):c.3946G>T (p.Val1316Leu)
NM_000552.5(VWF):c.4163A>G (p.Gln1388Arg) rs1944101095
NM_000552.5(VWF):c.4414G>A (p.Asp1472Asn) rs1800383
NM_000552.5(VWF):c.4637T>A (p.Val1546Glu) rs1591862366
NM_000552.5(VWF):c.4652C>T (p.Pro1551Leu)
NM_000552.5(VWF):c.4891G>A (p.Gly1631Ser)
NM_000552.5(VWF):c.4922G>A (p.Arg1641Lys) rs1944088119
NM_000552.5(VWF):c.5029A>G (p.Ile1677Val) rs1242618824
NM_000552.5(VWF):c.5051C>G (p.Pro1684Arg)
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.5198T>C (p.Leu1733Pro)
NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)
NM_000552.5(VWF):c.5694G>C (p.Gln1898His) rs1218412177
NM_000552.5(VWF):c.5729C>T (p.Thr1910Ile) rs2136403566
NM_000552.5(VWF):c.5746C>G (p.Arg1916Gly)
NM_000552.5(VWF):c.575C>T (p.Ala192Val) rs2136500405
NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp) rs751433166
NM_000552.5(VWF):c.6025C>T (p.His2009Tyr) rs761740133
NM_000552.5(VWF):c.6123C>A (p.Asn2041Lys) rs1943786371
NM_000552.5(VWF):c.6136A>G (p.Ile2046Val) rs2136386032
NM_000552.5(VWF):c.6256+2dup rs1565822983
NM_000552.5(VWF):c.6446A>G (p.Glu2149Gly) rs1397931528
NM_000552.5(VWF):c.6449G>C (p.Cys2150Ser) rs2136385448
NM_000552.5(VWF):c.6455A>G (p.Lys2152Arg) rs2136385431
NM_000552.5(VWF):c.6479A>G (p.Tyr2160Cys) rs779764302
NM_000552.5(VWF):c.6677C>T (p.Ser2226Phe) rs181987927
NM_000552.5(VWF):c.6768G>C (p.Gln2256His)
NM_000552.5(VWF):c.7114C>T (p.Pro2372Ser) rs2136371404
NM_000552.5(VWF):c.7201T>G (p.Ser2401Ala) rs2136371219
NM_000552.5(VWF):c.722T>G (p.Val241Gly) rs2136474453
NM_000552.5(VWF):c.7287+12T>G
NM_000552.5(VWF):c.7448A>G (p.Tyr2483Cys) rs2136358654
NM_000552.5(VWF):c.7519C>G (p.Arg2507Gly) rs368286307
NM_000552.5(VWF):c.7712G>A (p.Cys2571Tyr) rs1258347142
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)
NM_000552.5(VWF):c.8195A>G (p.Gln2732Arg) rs1443181806
NM_000552.5(VWF):c.8401G>A (p.Ala2801Thr) rs2136336158
NM_000552.5(VWF):c.960G>A (p.Met320Ile) rs2136472049

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