ClinVar Miner

List of variants in gene EHMT1 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 207
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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.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
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.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.737G>A (p.Arg246Gln) rs144871446 0.00092
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.204T>C (p.Asn68=) rs3812496 0.00043
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_024757.5(EHMT1):c.2280C>T (p.Asp760=) rs372779658 0.00029
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
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.3355G>A (p.Val1119Ile) rs139394414 0.00024
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
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.525A>T (p.Pro175=) rs138790341 0.00019
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr) rs565543981 0.00018
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.1176C>T (p.Asp392=) rs373083497 0.00016
NM_024757.5(EHMT1):c.2799C>T (p.His933=) rs573774002 0.00016
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404 0.00015
NM_024757.5(EHMT1):c.3495C>T (p.Ala1165=) rs148485081 0.00015
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_024757.5(EHMT1):c.3324G>A (p.Ala1108=) rs377320362 0.00010
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) rs201528122 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.933G>A (p.Thr311=) rs748259939 0.00009
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) rs568424578 0.00008
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_024757.5(EHMT1):c.1359C>T (p.Ser453=) rs545055517 0.00006
NM_024757.5(EHMT1):c.1380G>A (p.Ser460=) rs35935211 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.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.2356G>A (p.Val786Met) rs398124405 0.00006
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) rs752561133 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) rs769561363 0.00006
NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser) rs750654971 0.00006
NM_024757.5(EHMT1):c.1105G>A (p.Ala369Thr) rs200076276 0.00005
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) rs138824805 0.00005
NM_024757.5(EHMT1):c.40G>C (p.Glu14Gln) rs751473920 0.00005
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met) rs368319087 0.00004
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met) rs141689686 0.00004
NM_024757.5(EHMT1):c.2427G>A (p.Pro809=) rs370924392 0.00004
NM_024757.5(EHMT1):c.2665G>A (p.Val889Met) rs775400731 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser) rs749054610 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.3532G>A (p.Asp1178Asn) rs371824384 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.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_024757.5(EHMT1):c.770A>C (p.His257Pro) rs370539232 0.00004
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) rs754380060 0.00003
NM_024757.5(EHMT1):c.1496C>T (p.Ala499Val) rs755121153 0.00003
NM_024757.5(EHMT1):c.2181C>T (p.Leu727=) rs377163037 0.00003
NM_024757.5(EHMT1):c.2661C>T (p.Asp887=) rs139459283 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.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.630C>T (p.Ser210=) rs576449489 0.00003
NM_024757.5(EHMT1):c.69C>G (p.Thr23=) rs529750103 0.00003
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547 0.00002
NM_024757.5(EHMT1):c.161C>T (p.Thr54Ile) rs757663357 0.00002
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277 0.00002
NM_024757.5(EHMT1):c.2396T>C (p.Ile799Thr) rs775334071 0.00002
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) rs143083438 0.00002
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) rs763562241 0.00002
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile) rs779218347 0.00002
NM_024757.5(EHMT1):c.3654C>T (p.Asp1218=) rs1406192720 0.00002
NM_024757.5(EHMT1):c.3752G>T (p.Gly1251Val) rs1302317350 0.00002
NM_024757.5(EHMT1):c.3883G>A (p.Ala1295Thr) rs775220788 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 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.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_024757.5(EHMT1):c.716A>G (p.Lys239Arg) rs778733047 0.00002
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869 0.00001
NM_024757.5(EHMT1):c.1213G>A (p.Gly405Arg) rs766828352 0.00001
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) rs1265023925 0.00001
NM_024757.5(EHMT1):c.1806G>A (p.Glu602=) rs137852713 0.00001
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740 0.00001
NM_024757.5(EHMT1):c.2077C>T (p.Pro693Ser) rs765174338 0.00001
NM_024757.5(EHMT1):c.2079C>T (p.Pro693=) rs548142464 0.00001
NM_024757.5(EHMT1):c.2095A>G (p.Thr699Ala) rs1262088454 0.00001
NM_024757.5(EHMT1):c.2184C>T (p.Asp728=) rs760890506 0.00001
NM_024757.5(EHMT1):c.230C>G (p.Ala77Gly) rs762442350 0.00001
NM_024757.5(EHMT1):c.2334C>T (p.His778=) rs768030450 0.00001
NM_024757.5(EHMT1):c.2385G>A (p.Ala795=) rs1425514936 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_024757.5(EHMT1):c.2443G>A (p.Glu815Lys) rs1443023108 0.00001
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) rs779277999 0.00001
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028 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.3212G>C (p.Ser1071Thr) rs1427438113 0.00001
NM_024757.5(EHMT1):c.3394C>T (p.Arg1132Trp) rs1230494244 0.00001
NM_024757.5(EHMT1):c.33G>A (p.Ala11=) rs754740754 0.00001
NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln) rs761138496 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.3850G>A (p.Asp1284Asn) rs1193875824 0.00001
NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) rs990229301 0.00001
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp) rs760239482 0.00001
NM_024757.5(EHMT1):c.102C>G (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.107A>T (p.Glu36Val)
NM_024757.5(EHMT1):c.1109T>G (p.Phe370Cys)
NM_024757.5(EHMT1):c.124C>G (p.Gln42Glu)
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) rs1949206105
NM_024757.5(EHMT1):c.1335G>A (p.Arg445=) rs1564697340
NM_024757.5(EHMT1):c.1347A>G (p.Arg449=) rs2136219548
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) rs545055517
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.1502-5G>T
NM_024757.5(EHMT1):c.1870G>T (p.Ala624Ser) rs146905719
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.2115G>A (p.Gly705=) rs1564741472
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2125C>G (p.Pro709Ala)
NM_024757.5(EHMT1):c.2134T>C (p.Ser712Pro)
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_024757.5(EHMT1):c.2188dup (p.Glu730fs) rs1554879633
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly) rs757476606
NM_024757.5(EHMT1):c.229G>C (p.Ala77Pro)
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile) rs754504122
NM_024757.5(EHMT1):c.2411A>G (p.Glu804Gly)
NM_024757.5(EHMT1):c.2426C>G (p.Pro809Arg)
NM_024757.5(EHMT1):c.2483_2488delinsGA (p.Ala828fs)
NM_024757.5(EHMT1):c.2493G>C (p.Leu831=) rs1564768555
NM_024757.5(EHMT1):c.2687G>A (p.Gly896Asp) rs1953427756
NM_024757.5(EHMT1):c.2756T>A (p.Val919Glu) rs755525365
NM_024757.5(EHMT1):c.2865C>A (p.Val955=)
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3110A>G (p.Asn1037Ser)
NM_024757.5(EHMT1):c.3113A>C (p.Tyr1038Ser)
NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val)
NM_024757.5(EHMT1):c.3191G>A (p.Cys1064Tyr)
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.3321_3324del (p.Cys1109fs) rs1954889657
NM_024757.5(EHMT1):c.3321_3326delinsTT (p.Ala1108fs) rs1554897852
NM_024757.5(EHMT1):c.3346C>T (p.Arg1116Ter) rs749848324
NM_024757.5(EHMT1):c.3352C>T (p.Arg1118Cys) rs573020258
NM_024757.5(EHMT1):c.336C>T (p.Asp112=)
NM_024757.5(EHMT1):c.3447C>T (p.Gly1149=)
NM_024757.5(EHMT1):c.3544G>A (p.Gly1182Arg) rs2133151801
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.3573C>A (p.Phe1191Leu) rs1564845598
NM_024757.5(EHMT1):c.3577G>A (p.Gly1193Arg) rs1956451687
NM_024757.5(EHMT1):c.35G>A (p.Arg12Lys) rs777999570
NM_024757.5(EHMT1):c.3624G>A (p.Val1208=)
NM_024757.5(EHMT1):c.3784A>T (p.Lys1262Ter)
NM_024757.5(EHMT1):c.3801C>T (p.Ser1267=) rs775985514
NM_024757.5(EHMT1):c.3843C>T (p.Ala1281=) rs1564847509
NM_024757.5(EHMT1):c.3880G>C (p.Ala1294Pro)
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.505C>G (p.Pro169Ala) rs770718072
NM_024757.5(EHMT1):c.533C>G (p.Thr178Ser) rs777497639
NM_024757.5(EHMT1):c.608C>T (p.Ala203Val) rs1564630797
NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) rs764569458
NM_024757.5(EHMT1):c.749_750delinsG (p.Leu250fs)
NM_024757.5(EHMT1):c.755C>A (p.Pro252His)
NM_024757.5(EHMT1):c.793T>C (p.Cys265Arg)
NM_024757.5(EHMT1):c.799A>T (p.Met267Leu)
NM_024757.5(EHMT1):c.824-3del rs34385417
NM_024757.5(EHMT1):c.824-4_824-3del
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024757.5(EHMT1):c.828C>G (p.Cys276Trp)
NM_024757.5(EHMT1):c.903G>T (p.Lys301Asn)
NM_024757.5(EHMT1):c.953G>A (p.Ser318Asn)
NM_024757.5(EHMT1):c.98C>G (p.Ala33Gly) rs1376776485

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