ClinVar Miner

List of variants in gene VWF reported by PreventionGenetics, part of Exact Sciences

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Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7239T>C (p.Thr2413=) rs216867 0.84456
NM_000552.5(VWF):c.6799-14C>T rs177702 0.76003
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000552.5(VWF):c.2546+25C>T rs216325 0.70354
NM_000552.3(VWF):c.-1303G>A rs7965413 0.53288
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_000552.5(VWF):c.1548T>C (p.Tyr516=) rs1800379 0.41956
NM_000552.5(VWF):c.2365A>G (p.Thr789Ala) rs1063856 0.40814
NM_000552.5(VWF):c.2385T>C (p.Tyr795=) rs1063857 0.40791
NM_000552.5(VWF):c.5844C>T (p.Cys1948=) rs216902 0.37406
NM_000552.5(VWF):c.3222+31C>T rs73051263 0.29425
NM_000552.5(VWF):c.7082-7C>T rs216868 0.26357
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000552.5(VWF):c.1182A>C (p.Ser394=) rs1800376 0.24101
NM_000552.5(VWF):c.1173A>T (p.Thr391=) rs1800375 0.23172
NM_000552.5(VWF):c.8116-20A>C rs2270152 0.16787
NM_000552.5(VWF):c.998-27C>T rs55907031 0.16358
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
NM_000552.5(VWF):c.8155+50C>T rs2270151 0.12405
NM_000552.5(VWF):c.1411G>A (p.Val471Ile) rs1800377 0.11338
NM_000552.5(VWF):c.657+11A>C rs7980045 0.10566
NM_000552.5(VWF):c.3240T>C (p.Tyr1080=) rs4021576 0.09832
NM_000552.5(VWF):c.3379+7A>C rs113446850 0.09700
NM_000552.5(VWF):c.4665A>C (p.Ala1555=) rs1800384 0.08554
NM_000552.5(VWF):c.4693G>T (p.Val1565Leu) rs1800385 0.08527
NM_000552.5(VWF):c.7288-19C>T rs3819540 0.08253
NM_000552.5(VWF):c.3539-49C>T rs116243373 0.06948
NM_000552.5(VWF):c.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_000552.5(VWF):c.5312-47G>C rs57349683 0.06319
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.5620+50T>C rs201000688 0.06056
NM_000552.5(VWF):c.5664+33G>A rs55664929 0.06028
NM_000552.5(VWF):c.3426T>C (p.Cys1142=) rs535693463 0.05771
NM_000552.5(VWF):c.3486A>G (p.Pro1162=) rs546732699 0.05708
NM_000552.5(VWF):c.2220G>A (p.Met740Ile) rs2228317 0.05696
NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu) rs566672558 0.05671
NM_000552.5(VWF):c.7771-13C>T rs11063962 0.05514
NM_000552.5(VWF):c.3258C>T (p.Tyr1086=) rs112634786 0.04897
NM_000552.5(VWF):c.3414C>T (p.Asn1138=) rs560397436 0.04853
NM_000552.5(VWF):c.3539-33G>A rs148995386 0.04652
NM_000552.5(VWF):c.6345T>A (p.Thr2115=) rs11537642 0.04599
NM_000552.5(VWF):c.8113G>A (p.Gly2705Arg) rs7962217 0.04240
NM_000552.5(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161 0.04046
NM_000552.5(VWF):c.3795G>A (p.Pro1265=) rs2228319 0.03767
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.6798+14C>T rs7315124 0.03357
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_000552.5(VWF):c.3379+13G>A rs2885752 0.01966
NM_000552.5(VWF):c.1433-10T>C rs66722092 0.01853
NM_000552.5(VWF):c.5667C>T (p.Pro1889=) rs56981471 0.01850
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000552.5(VWF):c.5313G>T (p.Gly1771=) rs2229448 0.00914
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.7887+12T>C rs55687637 0.00814
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
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.7059G>C (p.Glu2353Asp) rs112319661 0.00195
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala) rs143743709 0.00168
NM_000552.5(VWF):c.3789G>A (p.Ser1263=) rs199831474 0.00146
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=) rs55784921 0.00132
NM_000552.5(VWF):c.8079C>T (p.Cys2693=) rs41276732 0.00130
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
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.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.7150C>T (p.Arg2384Trp) rs145697622 0.00093
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.1329C>T (p.Ser443=) rs142404899 0.00058
NM_000552.5(VWF):c.1753G>A (p.Ala585Thr) rs141777100 0.00049
NM_000552.5(VWF):c.1614C>T (p.Pro538=) rs138268387 0.00046
NM_000552.5(VWF):c.1410C>T (p.Asp470=) rs111867665 0.00038
NM_000552.5(VWF):c.6937C>T (p.Arg2313Cys) rs184921605 0.00032
NM_000552.5(VWF):c.8160G>A (p.Glu2720=) rs368802960 0.00014
NM_000552.5(VWF):c.6353G>A (p.Arg2118Gln) rs375779188 0.00008
NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe) rs190741083 0.00006
NM_000552.5(VWF):c.6015C>T (p.Ile2005=) rs575042694 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala) rs62641244 0.00004
NM_000552.5(VWF):c.4238C>T (p.Pro1413Leu) rs61750079 0.00002
NM_000552.5(VWF):c.1946-4C>T rs61748461 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.126C>G (p.Phe42Leu)
NM_000552.5(VWF):c.1280T>C (p.Ile427Thr)
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1551C>T (p.Ala517=)
NM_000552.5(VWF):c.1573G>C (p.Gly525Arg)
NM_000552.5(VWF):c.1606C>T (p.Leu536Phe)
NM_000552.5(VWF):c.1860G>A (p.Glu620=)
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.212C>T (p.Ser71Leu)
NM_000552.5(VWF):c.2282-42C>A rs216293
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.2545T>A (p.Cys849Ser)
NM_000552.5(VWF):c.257T>A (p.Val86Glu)
NM_000552.5(VWF):c.2610C>T (p.Ile870=)
NM_000552.5(VWF):c.2703C>T (p.Asn901=)
NM_000552.5(VWF):c.2814C>T (p.Asp938=)
NM_000552.5(VWF):c.3379C>T (p.Pro1127Ser)
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) rs121964895
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
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.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.4019T>C (p.Leu1340Pro)
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4176del (p.Met1393fs)
NM_000552.5(VWF):c.4258G>A (p.Ala1420Thr)
NM_000552.5(VWF):c.4402_4404del (p.Thr1468del)
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4705C>T (p.Arg1569Cys)
NM_000552.5(VWF):c.479G>A (p.Gly160Glu)
NM_000552.5(VWF):c.491A>G (p.Asn164Ser)
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5164A>G (p.Asn1722Asp)
NM_000552.5(VWF):c.5446A>G (p.Arg1816Gly)
NM_000552.5(VWF):c.5600T>C (p.Phe1867Ser)
NM_000552.5(VWF):c.6087C>G (p.Val2029=)
NM_000552.5(VWF):c.6118G>A (p.Val2040Ile)
NM_000552.5(VWF):c.6243G>A (p.Thr2081=)
NM_000552.5(VWF):c.6413A>G (p.His2138Arg)
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.7081+4A>T
NM_000552.5(VWF):c.7098G>T (p.Glu2366Asp)
NM_000552.5(VWF):c.7131G>C (p.Pro2377=)
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
NM_000552.5(VWF):c.7660del (p.Val2554fs)
NM_000552.5(VWF):c.7782T>A (p.Thr2594=) rs886038359
NM_000552.5(VWF):c.813C>T (p.Tyr271=)
NM_000552.5(VWF):c.8215T>C (p.Cys2739Arg) rs1591827147
NM_000552.5(VWF):c.8419_8422dup (p.Pro2808fs)
NM_000552.5(VWF):c.975C>T (p.Cys325=)

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