ClinVar Miner

List of variants reported as benign for acrofacial dysostosis by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)

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