ClinVar Miner

List of variants in gene VWF reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000552.5(VWF):c.6532G>T (p.Ala2178Ser) rs34230288 0.01330
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.5277C>T (p.Asp1759=) rs41276736 0.00826
NM_000552.5(VWF):c.7887+12T>C rs55687637 0.00814
NM_000552.5(VWF):c.391G>A (p.Gly131Ser) rs76505074 0.00651
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.1596C>T (p.Gly532=) rs111240043 0.00251
NM_000552.5(VWF):c.114C>T (p.Phe38=) rs2229443 0.00241
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.8079C>T (p.Cys2693=) rs41276732 0.00130
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_000552.5(VWF):c.6756G>A (p.Glu2252=) rs71581020 0.00110
NM_000552.5(VWF):c.2586G>T (p.Val862=) rs34510401 0.00109
NM_000552.5(VWF):c.7082-13G>C rs71581025 0.00108
NM_000552.5(VWF):c.2739A>C (p.Gly913=) rs35191786 0.00102
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_000552.5(VWF):c.1077C>T (p.Pro359=) rs71582884 0.00053
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.4173A>G (p.Gln1391=) rs145009516 0.00039
NM_000552.5(VWF):c.1519A>G (p.Arg507Gly) rs189409574 0.00019
NM_000552.5(VWF):c.8325T>C (p.Ser2775=) rs138588762 0.00019
NM_000552.5(VWF):c.858C>T (p.Thr286=) rs776206258 0.00011
NM_000552.5(VWF):c.8175C>T (p.Asn2725=) rs759147832 0.00004
NM_000552.5(VWF):c.1467C>T (p.Ser489=) rs377066810 0.00002
NM_000552.5(VWF):c.2009G>A (p.Arg670His) rs1022679972 0.00002
NM_000552.5(VWF):c.3144C>T (p.Asn1048=) rs201874365 0.00002
NM_000552.5(VWF):c.3923G>A (p.Arg1308His) rs61749388 0.00002
NM_000552.5(VWF):c.4800G>A (p.Ala1600=) rs201264909 0.00002
NM_000552.5(VWF):c.1534-6C>A rs1591890889 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NM_000552.5(VWF):c.1059C>T (p.Ser353=)
NM_000552.5(VWF):c.2389C>T (p.Leu797=)
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2694C>T (p.Cys898=)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3837C>T (p.Val1279=) rs748289333
NM_000552.5(VWF):c.3940del (p.Val1314fs) rs2136413513
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4049C>T (p.Ala1350Val)
NM_000552.5(VWF):c.4206G>A (p.Gln1402=)
NM_000552.5(VWF):c.4431T>C (p.Thr1477=)
NM_000552.5(VWF):c.4500G>A (p.Ala1500=)
NM_000552.5(VWF):c.4824C>T (p.Thr1608=) rs142635883
NM_000552.5(VWF):c.5700C>T (p.His1900=)
NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp) rs751433166
NM_000552.5(VWF):c.6403G>A (p.Asp2135Asn)
NM_000552.5(VWF):c.6825C>T (p.His2275=)
NM_000552.5(VWF):c.7292G>A (p.Cys2431Tyr) rs1591838900
NM_000552.5(VWF):c.7706C>A (p.Ala2569Glu) rs752093211
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8094A>G (p.Glu2698=)

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