ClinVar Miner

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

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Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.1037C>T (p.Thr346Ile) rs111971143 0.00436
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.1596C>T (p.Gly532=) rs111240043 0.00251
NM_000552.5(VWF):c.385C>A (p.Leu129Met) rs61753991 0.00225
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp) rs112319661 0.00195
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala) rs143743709 0.00168
NM_000552.5(VWF):c.6303C>A (p.Gly2101=) rs115914543 0.00132
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_000552.5(VWF):c.304G>A (p.Val102Met) rs147514785 0.00127
NM_000552.5(VWF):c.1562G>C (p.Cys521Ser) rs148591481 0.00114
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.1892C>T (p.Ala631Val) rs199963222 0.00084
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.2340C>G (p.Asn780Lys) rs143904314 0.00073
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
NM_000552.5(VWF):c.3868G>A (p.Glu1290Lys) rs138900040 0.00061
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr) rs141777100 0.00049
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_000552.5(VWF):c.5665-9C>A rs201789774 0.00041
NM_000552.5(VWF):c.7619T>C (p.Val2540Ala) rs150778949 0.00038
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_000552.5(VWF):c.1306C>T (p.Arg436Cys) rs145443126 0.00034
NM_000552.5(VWF):c.1945+22A>G rs907744114 0.00034
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys) rs184921605 0.00032
NM_000552.5(VWF):c.7025G>A (p.Arg2342His) rs34120165 0.00030
NM_000552.5(VWF):c.56-7C>T rs374802332 0.00025
NM_000552.5(VWF):c.6377T>C (p.Ile2126Thr) rs71579338 0.00025
NM_000552.5(VWF):c.7151G>A (p.Arg2384Gln) rs150201871 0.00019
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.7433G>A (p.Arg2478Gln) rs111752224 0.00016
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp) rs61748471 0.00015
NM_000552.5(VWF):c.4024C>T (p.Arg1342Cys) rs61749404 0.00015
NM_000552.5(VWF):c.6965A>T (p.Glu2322Val) rs201792015 0.00014
NM_000552.5(VWF):c.1870G>A (p.Gly624Ser) rs542226383 0.00013
NM_000552.5(VWF):c.2332G>A (p.Ala778Thr) rs146892641 0.00011
NM_000552.5(VWF):c.4906G>A (p.Val1636Met) rs145676400 0.00011
NM_000552.5(VWF):c.4012T>G (p.Ser1338Ala) rs771464323 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.7724G>A (p.Arg2575His) rs373321657 0.00008
NM_000552.5(VWF):c.8273C>T (p.Ala2758Val) rs144542595 0.00008
NM_000552.5(VWF):c.4201G>A (p.Val1401Ile) rs536484748 0.00007
NM_000552.5(VWF):c.4499C>T (p.Ala1500Val) rs61750096 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.6890C>T (p.Pro2297Leu) rs201372397 0.00007
NM_000552.5(VWF):c.1324C>T (p.Arg442Cys) rs148247755 0.00006
NM_000552.5(VWF):c.2525T>A (p.Val842Glu) rs773921894 0.00006
NM_000552.5(VWF):c.255C>T (p.Ser85=) rs369017115 0.00006
NM_000552.5(VWF):c.2673C>T (p.Tyr891=) rs753317915 0.00006
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp) rs61750116 0.00006
NM_000552.5(VWF):c.5227G>A (p.Val1743Met) rs781770261 0.00006
NM_000552.5(VWF):c.7552G>A (p.Gly2518Ser) rs61751293 0.00006
NM_000552.5(VWF):c.1205G>A (p.Arg402Lys) rs779082753 0.00005
NM_000552.5(VWF):c.1901C>T (p.Ala634Val) rs761282513 0.00004
NM_000552.5(VWF):c.2477G>A (p.Arg826Lys) rs368825064 0.00004
NM_000552.5(VWF):c.5287C>T (p.Arg1763Trp) rs763126601 0.00004
NM_000552.5(VWF):c.8333G>A (p.Arg2778Gln) rs150577615 0.00004
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.2373G>A (p.Thr791=) rs1286572448 0.00003
NM_000552.5(VWF):c.2744G>A (p.Ser915Asn) rs776598010 0.00003
NM_000552.5(VWF):c.3097_3099dup (p.Asp1033dup) rs752219725 0.00003
NM_000552.5(VWF):c.604C>T (p.Arg202Trp) rs990682639 0.00003
NM_000552.5(VWF):c.6183C>G (p.Phe2061Leu) rs745846395 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.924C>T (p.Cys308=) rs557379500 0.00003
NM_000552.5(VWF):c.1098C>T (p.Asp366=) rs745805859 0.00002
NM_000552.5(VWF):c.3434G>A (p.Arg1145His) rs1350829214 0.00002
NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp) rs746810319 0.00002
NM_000552.5(VWF):c.4123C>T (p.Pro1375Ser) rs751767496 0.00002
NM_000552.5(VWF):c.7081+7C>G rs1477159290 0.00002
NM_000552.5(VWF):c.77C>G (p.Thr26Ser) rs747404115 0.00002
NM_000552.5(VWF):c.8345T>C (p.Met2782Thr) rs1172733830 0.00002
NM_000552.5(VWF):c.1191G>C (p.Lys397Asn) rs745975177 0.00001
NM_000552.5(VWF):c.1286C>T (p.Thr429Ile) rs764823369 0.00001
NM_000552.5(VWF):c.1630C>A (p.Pro544Thr) rs1241627827 0.00001
NM_000552.5(VWF):c.1663C>T (p.Leu555=) rs779449782 0.00001
NM_000552.5(VWF):c.1679A>G (p.Gln560Arg) rs754526458 0.00001
NM_000552.5(VWF):c.1730-5C>T rs569984866 0.00001
NM_000552.5(VWF):c.1964G>A (p.Gly655Asp) rs750678981 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2625C>T (p.Tyr875=) rs1286096753 0.00001
NM_000552.5(VWF):c.2926C>T (p.Arg976Cys) rs764251476 0.00001
NM_000552.5(VWF):c.338A>G (p.Tyr113Cys) rs374854636 0.00001
NM_000552.5(VWF):c.3666C>T (p.Cys1222=) rs779819811 0.00001
NM_000552.5(VWF):c.3768T>C (p.Thr1256=) rs1216637550 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.4175G>A (p.Arg1392Gln) rs1944100808 0.00001
NM_000552.5(VWF):c.4255C>A (p.His1419Asn) rs375498783 0.00001
NM_000552.5(VWF):c.467A>G (p.Asn156Ser) rs371953822 0.00001
NM_000552.5(VWF):c.7081G>A (p.Ala2361Thr) rs1396364240 0.00001
NM_000552.5(VWF):c.7220T>C (p.Leu2407Pro) rs201494706 0.00001
NM_000552.5(VWF):c.7457A>G (p.His2486Arg) rs1312908190 0.00001
NM_000552.5(VWF):c.7625T>A (p.Ile2542Lys) rs201213029 0.00001
NM_000552.5(VWF):c.8332C>T (p.Arg2778Trp) rs368634026 0.00001
NM_000552.3:c.5456_5620del
NM_000552.5(VWF):c.1110-6dup rs534403271
NM_000552.5(VWF):c.1443C>T (p.Arg481=)
NM_000552.5(VWF):c.1562_1563delinsCT (p.Cys521Ser) rs1555198442
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu) rs139196998
NM_000552.5(VWF):c.1981T>C (p.Cys661Arg) rs1401763967
NM_000552.5(VWF):c.2011T>G (p.Ser671Ala)
NM_000552.5(VWF):c.2067C>T (p.Cys689=)
NM_000552.5(VWF):c.2146T>G (p.Phe716Val) rs771858185
NM_000552.5(VWF):c.22G>A (p.Gly8Arg)
NM_000552.5(VWF):c.236G>T (p.Gly79Val)
NM_000552.5(VWF):c.2370A>C (p.Lys790Asn) rs1565841707
NM_000552.5(VWF):c.2445C>T (p.Val815=) rs922545398
NM_000552.5(VWF):c.2554C>G (p.Gln852Glu)
NM_000552.5(VWF):c.2686-1G>C rs61748488
NM_000552.5(VWF):c.2879_2880delinsCA (p.Arg960Pro)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3108+9G>A rs2136420791
NM_000552.5(VWF):c.3109-5C>T rs776286625
NM_000552.5(VWF):c.3173C>T (p.Ser1058Phe)
NM_000552.5(VWF):c.3390C>G (p.Cys1130Trp) rs1591865617
NM_000552.5(VWF):c.3406C>T (p.Arg1136Trp)
NM_000552.5(VWF):c.3610C>T (p.Arg1204Trp)
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3830A>T (p.Asp1277Val)
NM_000552.5(VWF):c.3901G>A (p.Val1301Met)
NM_000552.5(VWF):c.3936G>T (p.Lys1312Asn) rs1591863336
NM_000552.5(VWF):c.3965A>C (p.His1322Pro) rs1565832266
NM_000552.5(VWF):c.4010C>A (p.Pro1337Gln)
NM_000552.5(VWF):c.4078G>T (p.Val1360Phe)
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)
NM_000552.5(VWF):c.409G>T (p.Val137Leu)
NM_000552.5(VWF):c.4211T>C (p.Leu1404Pro) rs2136412890
NM_000552.5(VWF):c.4213AAG[2] (p.Lys1407_Lys1408del)
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln) rs61750079
NM_000552.5(VWF):c.4241T>G (p.Val1414Gly) rs1565831973
NM_000552.5(VWF):c.4258G>A (p.Ala1420Thr)
NM_000552.5(VWF):c.435C>G (p.Asn145Lys) rs1591924311
NM_000552.5(VWF):c.4585G>A (p.Asp1529Asn)
NM_000552.5(VWF):c.4607A>C (p.His1536Pro)
NM_000552.5(VWF):c.4680C>G (p.Asp1560Glu) rs1443549124
NM_000552.5(VWF):c.4724G>A (p.Arg1575Lys)
NM_000552.5(VWF):c.4810G>T (p.Val1604Phe) rs61750578
NM_000552.5(VWF):c.4840G>A (p.Asp1614Asn) rs1478977315
NM_000552.5(VWF):c.4841A>G (p.Asp1614Gly) rs61750582
NM_000552.5(VWF):c.4873G>C (p.Val1625Leu) rs1220968200
NM_000552.5(VWF):c.4917G>A (p.Leu1639=)
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
NM_000552.5(VWF):c.5407G>A (p.Val1803Ile)
NM_000552.5(VWF):c.5442C>A (p.Ala1814=) rs757527506
NM_000552.5(VWF):c.5469_5474del (p.Pro1824_Ile1825del)
NM_000552.5(VWF):c.5483G>T (p.Gly1828Val)
NM_000552.5(VWF):c.5667C>G (p.Pro1889=) rs56981471
NM_000552.5(VWF):c.5761C>T (p.Arg1921Trp)
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
NM_000552.5(VWF):c.6248G>A (p.Gly2083Asp)
NM_000552.5(VWF):c.6256+2dup rs1565822983
NM_000552.5(VWF):c.7086C>G (p.Cys2362Trp) rs1943611695
NM_000552.5(VWF):c.7184C>T (p.Ala2395Val) rs1943610160
NM_000552.5(VWF):c.7288-9T>G rs1348526788
NM_000552.5(VWF):c.7301G>A (p.Arg2434Gln)
NM_000552.5(VWF):c.7553G>C (p.Gly2518Ala) rs971026321
NM_000552.5(VWF):c.7604G>A (p.Arg2535Gln)
NM_000552.5(VWF):c.7616A>T (p.Glu2539Val)
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
NM_000552.5(VWF):c.7774G>A (p.Gly2592Arg)
NM_000552.5(VWF):c.7810C>T (p.Arg2604Cys)
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.799G>A (p.Ala267Thr)
NM_000552.5(VWF):c.8155T>C (p.Cys2719Arg) rs1565806592
NM_000552.5(VWF):c.8156-6C>T
NM_000552.5(VWF):c.8295C>T (p.Asn2765=)
NM_000552.5(VWF):c.8416T>C (p.Cys2806Arg) rs267607372

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