ClinVar Miner

List of variants reported as benign for Kleefstra syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_024757.5(EHMT1):c.1501+13G>T rs3125794 0.13335
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_024757.5(EHMT1):c.1648-20C>T rs12341990 0.05440
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04812
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198 0.01217
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782 0.00240
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310 0.00150
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462 0.00091
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_024757.5(EHMT1):c.1983G>A (p.Ser661=) rs143204067 0.00051
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.142A>G (p.Met48Val) rs145206240 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.3717-6C>G rs540561282 0.00026
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) rs139394414 0.00024
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_024757.5(EHMT1):c.312G>A (p.Ala104=) rs576731460 0.00020
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_024757.5(EHMT1):c.2628C>T (p.Pro876=) rs746543655 0.00011
NM_024757.5(EHMT1):c.3181-15C>T rs766140415 0.00011
NM_024757.5(EHMT1):c.3717-13G>T rs779131156 0.00011
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.3324G>A (p.Ala1108=) rs377320362 0.00010
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.1469G>A (p.Arg490Gln) rs756231112 0.00008
NM_024757.5(EHMT1):c.2340G>A (p.Ala780=) rs139463826 0.00008
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) rs568424578 0.00008
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748 0.00007
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) rs755711930 0.00007
NM_024757.5(EHMT1):c.1359C>T (p.Ser453=) rs545055517 0.00006
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707 0.00006
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.2019-18C>T rs181972681 0.00006
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu) rs531716541 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.2945A>G (p.Asn982Ser) rs141891925 0.00006
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) rs769561363 0.00006
NM_024757.5(EHMT1):c.1105G>A (p.Ala369Thr) rs200076276 0.00005
NM_024757.5(EHMT1):c.1204G>A (p.Val402Met) rs369984436 0.00004
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148 0.00004
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met) rs368319087 0.00004
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029 0.00004
NM_024757.5(EHMT1):c.3035+6C>G rs752797201 0.00004
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876 0.00004
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met) rs374127714 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.596A>G (p.Lys199Arg) rs553376740 0.00004
NM_024757.5(EHMT1):c.770A>C (p.His257Pro) rs370539232 0.00004
NM_024757.5(EHMT1):c.1014C>T (p.His338=) rs753010324 0.00003
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) rs532880924 0.00003
NM_024757.5(EHMT1):c.141C>G (p.His47Gln) rs768561835 0.00003
NM_024757.5(EHMT1):c.1496C>T (p.Ala499Val) rs755121153 0.00003
NM_024757.5(EHMT1):c.205G>A (p.Ala69Thr) rs1468072346 0.00003
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003 0.00003
NM_024757.5(EHMT1):c.325G>A (p.Val109Ile) rs199703555 0.00003
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp) rs778857511 0.00003
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) rs747339529 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.793T>G (p.Cys265Gly) rs978764377 0.00003
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547 0.00002
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) rs146814571 0.00002
NM_024757.5(EHMT1):c.2093C>T (p.Pro698Leu) rs371829525 0.00002
NM_024757.5(EHMT1):c.2097G>A (p.Thr699=) rs756140987 0.00002
NM_024757.5(EHMT1):c.2382+10C>T rs780312766 0.00002
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326 0.00002
NM_024757.5(EHMT1):c.2748C>T (p.Ser916=) rs756950236 0.00002
NM_024757.5(EHMT1):c.3093C>T (p.Ser1031=) rs62590780 0.00002
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) rs369941047 0.00002
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) rs763562241 0.00002
NM_024757.5(EHMT1):c.337G>A (p.Asp113Asn) rs752755202 0.00002
NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met) rs754986694 0.00002
NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn) rs778503301 0.00002
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr) rs768398355 0.00002
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) rs753105081 0.00002
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869 0.00001
NM_024757.5(EHMT1):c.1170G>A (p.Lys390=) rs1442452133 0.00001
NM_024757.5(EHMT1):c.1271A>G (p.Lys424Arg) rs756812570 0.00001
NM_024757.5(EHMT1):c.1283A>G (p.Lys428Arg) rs370054552 0.00001
NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val) rs987954303 0.00001
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) rs757679895 0.00001
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg) rs752777139 0.00001
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) rs369492404 0.00001
NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro) rs764527438 0.00001
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) rs398124403 0.00001
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala) rs1588326023 0.00001
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) rs753928723 0.00001
NM_024757.5(EHMT1):c.2192+13_2192+14del rs766298831 0.00001
NM_024757.5(EHMT1):c.223G>C (p.Asp75His) rs777679735 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028 0.00001
NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn) rs745973990 0.00001
NM_024757.5(EHMT1):c.3035+3G>A rs765407306 0.00001
NM_024757.5(EHMT1):c.3193A>G (p.Ile1065Val) rs1444366252 0.00001
NM_024757.5(EHMT1):c.3199G>A (p.Asp1067Asn) rs751091478 0.00001
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp) rs911814791 0.00001
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.3874G>A (p.Ala1292Thr) rs756941316 0.00001
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743 0.00001
NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) rs990229301 0.00001
NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu) rs1389665235 0.00001
NM_024757.5(EHMT1):c.484G>A (p.Gly162Ser) rs775347185 0.00001
NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln) rs1945389965 0.00001
NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser) rs770718072 0.00001
NM_024757.5(EHMT1):c.585C>T (p.Gly195=) rs758787514 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_024757.5(EHMT1):c.633C>T (p.Val211=) rs751159756 0.00001
NM_024757.5(EHMT1):c.679G>A (p.Ala227Thr) rs1564650516 0.00001
NM_024757.5(EHMT1):c.91C>G (p.Pro31Ala) rs759512176 0.00001
NM_024757.5(EHMT1):c.998G>A (p.Gly333Asp) rs371587885 0.00001
NM_024757.5(EHMT1):c.1036A>T (p.Met346Leu) rs1343474221
NM_024757.5(EHMT1):c.1053C>G (p.Asp351Glu) rs779549255
NM_024757.5(EHMT1):c.1053C>T (p.Asp351=)
NM_024757.5(EHMT1):c.1065G>T (p.Glu355Asp)
NM_024757.5(EHMT1):c.1069G>A (p.Glu357Lys)
NM_024757.5(EHMT1):c.1080C>T (p.Asp360=)
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.108A>C (p.Glu36Asp) rs1221520708
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) rs1300327079
NM_024757.5(EHMT1):c.1125C>G (p.Ser375Arg) rs2136064301
NM_024757.5(EHMT1):c.1179G>A (p.Gly393=)
NM_024757.5(EHMT1):c.1185C>T (p.Ser395=)
NM_024757.5(EHMT1):c.1196A>G (p.Gln399Arg)
NM_024757.5(EHMT1):c.1210A>G (p.Thr404Ala) rs2136190497
NM_024757.5(EHMT1):c.123A>G (p.Lys41=)
NM_024757.5(EHMT1):c.127G>C (p.Ala43Pro)
NM_024757.5(EHMT1):c.1286G>A (p.Arg429Lys) rs1949204312
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val) rs79514677
NM_024757.5(EHMT1):c.12C>G (p.Ala4=)
NM_024757.5(EHMT1):c.1372T>C (p.Ser458Pro)
NM_024757.5(EHMT1):c.1393G>A (p.Ala465Thr) rs2136273568
NM_024757.5(EHMT1):c.13G>T (p.Asp5Tyr)
NM_024757.5(EHMT1):c.1401C>T (p.Ser467=)
NM_024757.5(EHMT1):c.1468C>G (p.Arg490Gly) rs1588553447
NM_024757.5(EHMT1):c.149C>G (p.Ala50Gly) rs143155406
NM_024757.5(EHMT1):c.1635C>T (p.Ser545=)
NM_024757.5(EHMT1):c.1652G>T (p.Gly551Val)
NM_024757.5(EHMT1):c.1691G>A (p.Arg564His) rs1303979081
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.180C>A (p.Asn60Lys)
NM_024757.5(EHMT1):c.1858C>A (p.Arg620=) rs137852718
NM_024757.5(EHMT1):c.1878T>C (p.Tyr626=)
NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) rs138292762
NM_024757.5(EHMT1):c.1956A>G (p.Thr652=)
NM_024757.5(EHMT1):c.2074G>T (p.Val692Leu) rs770534271
NM_024757.5(EHMT1):c.2085C>G (p.Gly695=)
NM_024757.5(EHMT1):c.21+18C>T rs896972883
NM_024757.5(EHMT1):c.21+24del
NM_024757.5(EHMT1):c.21+24dup
NM_024757.5(EHMT1):c.21+5G>C
NM_024757.5(EHMT1):c.2102C>T (p.Pro701Leu)
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.2134T>C (p.Ser712Pro)
NM_024757.5(EHMT1):c.215A>G (p.His72Arg) rs748754036
NM_024757.5(EHMT1):c.229G>A (p.Ala77Thr) rs768764806
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser) rs1054853293
NM_024757.5(EHMT1):c.2377G>C (p.Val793Leu) rs764584215
NM_024757.5(EHMT1):c.2382+3G>A rs976828902
NM_024757.5(EHMT1):c.2557G>A (p.Glu853Lys) rs1267450776
NM_024757.5(EHMT1):c.2592G>A (p.Met864Ile) rs2137313555
NM_024757.5(EHMT1):c.2607+6del
NM_024757.5(EHMT1):c.2619C>T (p.Gly873=)
NM_024757.5(EHMT1):c.2652G>A (p.Lys884=)
NM_024757.5(EHMT1):c.266C>G (p.Thr89Ser) rs1945360380
NM_024757.5(EHMT1):c.2795T>C (p.Leu932Pro)
NM_024757.5(EHMT1):c.2823G>A (p.Ser941=)
NM_024757.5(EHMT1):c.2857G>A (p.Asp953Asn)
NM_024757.5(EHMT1):c.2904G>A (p.Lys968=)
NM_024757.5(EHMT1):c.2967G>A (p.Leu989=)
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile) rs138283222
NM_024757.5(EHMT1):c.3043G>T (p.Ala1015Ser) rs764291502
NM_024757.5(EHMT1):c.3156C>T (p.Ile1052=)
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3181-10C>G rs1954761233
NM_024757.5(EHMT1):c.3206C>T (p.Ser1069Phe)
NM_024757.5(EHMT1):c.3219C>T (p.Cys1073=)
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala) rs897615767
NM_024757.5(EHMT1):c.3357C>T (p.Val1119=)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.350C>G (p.Thr117Ser) rs374844911
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.35G>A (p.Arg12Lys) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3613C>T (p.Pro1205Ser)
NM_024757.5(EHMT1):c.3716+14del
NM_024757.5(EHMT1):c.3783C>A (p.Pro1261=)
NM_024757.5(EHMT1):c.3786G>A (p.Lys1262=)
NM_024757.5(EHMT1):c.3852C>T (p.Asp1284=)
NM_024757.5(EHMT1):c.3892C>G (p.Leu1298Val) rs768498317
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.411G>A (p.Leu137=)
NM_024757.5(EHMT1):c.422G>A (p.Ser141Asn) rs1294932309
NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile)
NM_024757.5(EHMT1):c.42G>C (p.Glu14Asp) rs370545724
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.496A>G (p.Ser166Gly)
NM_024757.5(EHMT1):c.505C>G (p.Pro169Ala) rs770718072
NM_024757.5(EHMT1):c.520G>T (p.Ala174Ser) rs145055789
NM_024757.5(EHMT1):c.530C>T (p.Ala177Val)
NM_024757.5(EHMT1):c.573C>T (p.Leu191=)
NM_024757.5(EHMT1):c.578C>G (p.Ala193Gly)
NM_024757.5(EHMT1):c.629C>G (p.Ser210Cys)
NM_024757.5(EHMT1):c.634G>A (p.Val212Met) rs1445870595
NM_024757.5(EHMT1):c.744G>C (p.Gln248His)
NM_024757.5(EHMT1):c.804C>T (p.Ala268=)
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024757.5(EHMT1):c.85+6G>A rs1288957401
NM_024757.5(EHMT1):c.931A>C (p.Thr311Pro)
NM_024757.5(EHMT1):c.954C>T (p.Ser318=)
NM_024757.5(EHMT1):c.982-9G>A rs368418026

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