ClinVar Miner

List of variants in gene VWF reported as pathogenic by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
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.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.1548T>A (p.Tyr516Ter) rs1800379
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2435dup (p.Met814fs) rs62643632
NM_000552.5(VWF):c.3389G>T (p.Cys1130Phe) rs267607324
NM_000552.5(VWF):c.3430T>G (p.Trp1144Gly) rs267607325
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4006C>T (p.Arg1336Ter) rs1565832211
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.5455+1G>A rs2136408263
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874

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