ClinVar Miner

List of variants in gene VWF reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
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.8378T>C (p.Val2793Ala) rs143743709 0.00168
NM_000552.5(VWF):c.304G>A (p.Val102Met) rs147514785 0.00127
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys) rs138900040 0.00061
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys) rs184921605 0.00032
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys) rs61749404 0.00015
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000552.5(VWF):c.1514G>A (p.Arg505His) rs139830291 0.00004
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.3097_3099dup (p.Asp1033dup) rs752219725 0.00003
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000552.5(VWF):c.4123C>T (p.Pro1375Ser) rs751767496 0.00002
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.4205A>G (p.Gln1402Arg) rs1182668622 0.00001
NM_000552.5(VWF):c.1048T>C (p.Cys350Arg)
NM_000552.5(VWF):c.2098G>T (p.Asp700Tyr) rs377672051
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3103A>G (p.Arg1035Gly)
NM_000552.5(VWF):c.3377G>A (p.Cys1126Tyr) rs1591866134
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.4037A>G (p.Gln1346Arg)
NM_000552.5(VWF):c.4133C>T (p.Ser1378Phe) rs61750073
NM_000552.5(VWF):c.4151T>C (p.Leu1384Pro) rs2136412999
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln) rs61750079
NM_000552.5(VWF):c.4381G>A (p.Ala1461Thr) rs1944097477
NM_000552.5(VWF):c.4493A>G (p.Asp1498Gly) rs1565831748
NM_000552.5(VWF):c.4549A>C (p.Ser1517Arg) rs2136412356
NM_000552.5(VWF):c.4735G>A (p.Gly1579Arg) rs61750113
NM_000552.5(VWF):c.5009G>C (p.Cys1670Ser)
NM_000552.5(VWF):c.512A>T (p.Asp171Val)
NM_000552.5(VWF):c.5177G>A (p.Arg1726His) rs147313320
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg) rs267607372

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