ClinVar Miner

List of variants in gene VWF reported by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 141
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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.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.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.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_000552.5(VWF):c.954T>A (p.Asn318Lys) rs1800387 0.15296
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.3579T>C (p.Pro1193=) rs16933969 0.06947
NM_000552.5(VWF):c.1626G>A (p.Ala542=) rs35365059 0.06825
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
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.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.4138A>G (p.Ile1380Val) rs11063988 0.03649
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000552.5(VWF):c.4304A>G (p.Asn1435Ser) rs11063987 0.03448
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.1945+15T>A rs71582861 0.02177
NM_000552.5(VWF):c.1794C>T (p.Ala598=) rs35302737 0.02100
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.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_000552.5(VWF):c.6902-5T>A rs112046757 0.01517
NM_000552.5(VWF):c.5843-8C>G rs34444862 0.01303
NM_000552.5(VWF):c.390C>T (p.Ser130=) rs2229444 0.01260
NM_000552.5(VWF):c.7698G>A (p.Lys2566=) rs16932285 0.00947
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.5664+15G>A rs7961539 0.00560
NM_000552.5(VWF):c.55+8C>A rs114713980 0.00452
NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser) rs61750615 0.00437
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
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.2103C>T (p.Cys701=) rs78995469 0.00185
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_000552.5(VWF):c.6756G>A (p.Glu2252=) rs71581020 0.00110
NM_000552.5(VWF):c.7082-13G>C rs71581025 0.00108
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.3719C>T (p.Pro1240Leu) rs150576611 0.00060
NM_000552.5(VWF):c.1077C>T (p.Pro359=) rs71582884 0.00053
NM_000552.5(VWF):c.2281+13C>T rs183077797 0.00051
NM_000552.5(VWF):c.5665-9C>A rs201789774 0.00041
NM_000552.5(VWF):c.2547-5C>T rs373203368 0.00038
NM_000552.5(VWF):c.7362C>T (p.Thr2454=) rs146504585 0.00038
NM_000552.5(VWF):c.874+7C>T rs201187598 0.00033
NM_000552.5(VWF):c.5171-7C>T rs368303633 0.00019
NM_000552.5(VWF):c.7007C>T (p.Pro2336Leu) rs144769404 0.00017
NM_000552.5(VWF):c.7730-4C>G rs71581030 0.00015
NM_000552.5(VWF):c.6931C>T (p.Arg2311Cys) rs150725355 0.00014
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.8160G>A (p.Glu2720=) rs368802960 0.00014
NM_000552.5(VWF):c.5533G>A (p.Asp1845Asn) rs201548925 0.00012
NM_000552.5(VWF):c.7770+13C>A rs368470281 0.00011
NM_000552.5(VWF):c.858C>T (p.Thr286=) rs776206258 0.00011
NM_000552.5(VWF):c.250C>T (p.Leu84Phe) rs372664002 0.00010
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met) rs149432685 0.00009
NM_000552.5(VWF):c.2968-12T>C rs371677551 0.00006
NM_000552.5(VWF):c.3952G>A (p.Val1318Met) rs372028373 0.00006
NM_000552.5(VWF):c.7800C>T (p.Cys2600=) rs200209213 0.00006
NM_000552.5(VWF):c.55+15G>A rs201377447 0.00005
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser) rs61750618 0.00005
NM_000552.5(VWF):c.3379+12C>T rs374393996 0.00004
NM_000552.5(VWF):c.4103T>C (p.Ile1368Thr) rs199675425 0.00004
NM_000552.5(VWF):c.5785A>T (p.Asn1929Tyr) rs149799233 0.00004
NM_000552.5(VWF):c.6611C>T (p.Pro2204Leu) rs777556669 0.00004
NM_000552.5(VWF):c.6798+13G>A rs201509264 0.00004
NM_000552.5(VWF):c.1051G>A (p.Val351Met) rs535978867 0.00003
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000552.5(VWF):c.3720G>A (p.Pro1240=) rs141792415 0.00003
NM_000552.5(VWF):c.4007G>A (p.Arg1336Gln) rs886049741 0.00003
NM_000552.5(VWF):c.6976+11C>T rs751395078 0.00003
NM_000552.5(VWF):c.7240G>A (p.Ala2414Thr) rs754853953 0.00002
NM_000552.5(VWF):c.1497G>C (p.Gln499His) rs774725519 0.00001
NM_000552.5(VWF):c.1730-5C>T rs569984866 0.00001
NM_000552.5(VWF):c.2289G>A (p.Arg763=) rs886049743 0.00001
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln) rs772203447 0.00001
NM_000552.5(VWF):c.3539-15A>G rs748934603 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.5170+3G>A rs550242545 0.00001
NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu) rs551649729 0.00001
NM_000552.5(VWF):c.5493C>T (p.Tyr1831=) rs769268109 0.00001
NM_000552.5(VWF):c.5620+10A>G rs886049740 0.00001
NM_000552.5(VWF):c.6043G>A (p.Glu2015Lys) rs775806908 0.00001
NM_000552.5(VWF):c.6196A>G (p.Asn2066Asp) rs886049738 0.00001
NM_000552.5(VWF):c.6572T>C (p.Val2191Ala) rs753731128 0.00001
NM_000552.5(VWF):c.7056C>T (p.Gly2352=) rs746482504 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7729+8A>G rs775123891 0.00001
NM_000552.5(VWF):c.8155+8C>T rs886049735 0.00001
NM_000552.5(VWF):c.-107C>G rs886049747
NM_000552.5(VWF):c.-131G>C rs886049748
NM_000552.5(VWF):c.-72C>T rs886049746
NM_000552.5(VWF):c.1142A>G (p.Asn381Ser) rs886049745
NM_000552.5(VWF):c.1730-18_1730-12del rs756282321
NM_000552.5(VWF):c.1752C>T (p.Cys584=) rs748584672
NM_000552.5(VWF):c.1862G>C (p.Cys621Ser) rs886049744
NM_000552.5(VWF):c.1946-17_1946-15dup rs10622288
NM_000552.5(VWF):c.3162G>C (p.Thr1054=) rs754421736
NM_000552.5(VWF):c.3538+6G>T rs886049742
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.5170+14G>C rs1262362572
NM_000552.5(VWF):c.56-14G>T rs1945429534
NM_000552.5(VWF):c.5876T>G (p.Val1959Gly) rs886049739
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7790T>A (p.Ile2597Asn) rs886049737
NM_000552.5(VWF):c.792del (p.Cys265fs) rs1565853894
NM_000552.5(VWF):c.7947C>T (p.Cys2649=) rs748907832
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8052C>A (p.Tyr2684Ter) rs1565806829
NM_000552.5(VWF):c.8096A>G (p.His2699Arg) rs886049736
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser) rs371036946

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