ClinVar Miner

List of variants in gene EHMT1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.2608-193G>A rs111893207 0.03670
NM_024757.5(EHMT1):c.2192+243T>C rs74772676 0.02886
NM_024757.5(EHMT1):c.1171-145C>T rs41302687 0.02141
NM_024757.5(EHMT1):c.1647+78C>T rs41302691 0.02138
NM_024757.5(EHMT1):c.3035+63C>T rs146810301 0.01387
NM_024757.5(EHMT1):c.2018+248T>C rs114678443 0.01153
NM_024757.5(EHMT1):c.2712+231G>A rs117673621 0.01064
NM_024757.5(EHMT1):c.2276-130C>T rs113755554 0.01061
NM_024757.5(EHMT1):c.1647+109C>T rs116642604 0.01027
NM_024757.5(EHMT1):c.3180+162C>T rs74885358 0.01015
NM_024757.5(EHMT1):c.3181-291T>A rs114460617 0.01011
NM_024757.5(EHMT1):c.3181-125G>A rs75767128 0.00982
NM_024757.5(EHMT1):c.3461+189C>T rs111985511 0.00982
NM_024757.5(EHMT1):c.1370-33G>A rs111574216 0.00978
NM_024757.5(EHMT1):c.823+163C>T rs115172360 0.00977
NM_024757.5(EHMT1):c.3181-266C>T rs73578867 0.00922
NM_024757.5(EHMT1):c.2019-137C>T rs17064836 0.00882
NM_024757.5(EHMT1):c.1171-290C>G rs191599391 0.00858
NM_024757.5(EHMT1):c.21+202G>A rs967570261 0.00618
NM_024757.5(EHMT1):c.1648-280G>A rs116126257 0.00582
NM_024757.5(EHMT1):c.2382+151C>T rs111242467 0.00562
NM_024757.5(EHMT1):c.1170+247T>G rs114445542 0.00549
NM_024757.5(EHMT1):c.1170+232T>C rs148235146 0.00462
NM_024757.5(EHMT1):c.3541-88C>T rs149859341 0.00451
NM_024757.5(EHMT1):c.1792-26A>T rs59999550 0.00437
NM_024757.5(EHMT1):c.3717-24G>T rs147952860 0.00434
NM_024757.5(EHMT1):c.642+112G>A rs377222924 0.00329
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00308
NM_024757.5(EHMT1):c.22-23C>T rs187274589 0.00192
NM_024757.5(EHMT1):c.1501+315G>A rs181506214 0.00115
NM_024757.5(EHMT1):c.981+42A>G rs138108260 0.00058
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00048
NM_024757.5(EHMT1):c.824C>T (p.Ala275Val) rs772558779 0.00038
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00023
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) rs139394414 0.00023
NM_024757.5(EHMT1):c.828C>T (p.Cys276=) rs773641122 0.00023
NM_024757.5(EHMT1):c.3374+21G>A rs374318772 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00021
NM_024757.5(EHMT1):c.3181-39G>C rs200895517 0.00017
NM_024757.5(EHMT1):c.525A>T (p.Pro175=) rs138790341 0.00017
NM_024757.5(EHMT1):c.2799C>T (p.His933=) rs573774002 0.00016
NM_024757.5(EHMT1):c.2505+38T>C rs138878191 0.00015
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu) rs571203834 0.00014
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122 0.00014
NM_024757.5(EHMT1):c.3495C>T (p.Ala1165=) rs148485081 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.2523G>A (p.Thr841=) rs374867415 0.00013
NM_024757.5(EHMT1):c.3716+46G>C rs370948022 0.00013
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00012
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_024757.5(EHMT1):c.3252C>T (p.Tyr1084=) rs368087892 0.00011
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00009
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.2797C>T (p.His933Tyr) rs148946382 0.00009
NM_024757.5(EHMT1):c.3489A>G (p.Ser1163=) rs200090916 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143 0.00008
NM_024757.5(EHMT1):c.2340G>A (p.Ala780=) rs139463826 0.00008
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00008
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr) rs772023246 0.00008
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00008
NM_024757.5(EHMT1):c.2945A>G (p.Asn982Ser) rs141891925 0.00007
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu) rs531716541 0.00006
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) rs752561133 0.00006
NM_024757.5(EHMT1):c.3375-8T>A rs371179697 0.00006
NM_024757.5(EHMT1):c.3716+15G>A rs373283387 0.00005
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn) rs778201214 0.00004
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met) rs368319087 0.00004
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) rs765396242 0.00004
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029 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.770A>C (p.His257Pro) rs370539232 0.00004
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val) rs764415861 0.00003
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668 0.00003
NM_024757.5(EHMT1):c.2427G>A (p.Pro809=) rs370924392 0.00003
NM_024757.5(EHMT1):c.2608-30C>T rs373882634 0.00003
NM_024757.5(EHMT1):c.3022A>C (p.Arg1008=) rs767195768 0.00003
NM_024757.5(EHMT1):c.3043G>A (p.Ala1015Thr) rs764291502 0.00003
NM_024757.5(EHMT1):c.30G>A (p.Pro10=) rs369073742 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.3395G>A (p.Arg1132Gln) rs762881531 0.00003
NM_024757.5(EHMT1):c.3462-4G>C rs374317041 0.00003
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_024757.5(EHMT1):c.1068C>T (p.Leu356=) rs928150931 0.00002
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547 0.00002
NM_024757.5(EHMT1):c.1859G>A (p.Arg620Gln) rs534087251 0.00002
NM_024757.5(EHMT1):c.22-45G>A rs777859284 0.00002
NM_024757.5(EHMT1):c.2712+22C>T rs760139282 0.00002
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=) rs200102386 0.00002
NM_024757.5(EHMT1):c.2748C>T (p.Ser916=) rs756950236 0.00002
NM_024757.5(EHMT1):c.3576C>T (p.Tyr1192=) rs560338601 0.00002
NM_024757.5(EHMT1):c.361G>A (p.Gly121Ser) rs771499811 0.00002
NM_024757.5(EHMT1):c.3717-12T>A rs747881388 0.00002
NM_024757.5(EHMT1):c.513G>A (p.Thr171=) rs765164018 0.00002
NM_024757.5(EHMT1):c.578C>T (p.Ala193Val) rs755550350 0.00002
NM_024757.5(EHMT1):c.*6C>T rs1254463523 0.00001
NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val) rs987954303 0.00001
NM_024757.5(EHMT1):c.1493A>G (p.Gln498Arg) rs1949510530 0.00001
NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp) rs779709777 0.00001
NM_024757.5(EHMT1):c.1791+16G>A rs375461503 0.00001
NM_024757.5(EHMT1):c.1806G>A (p.Glu602=) rs137852713 0.00001
NM_024757.5(EHMT1):c.2334C>T (p.His778=) rs768030450 0.00001
NM_024757.5(EHMT1):c.2556C>T (p.Tyr852=) rs369283972 0.00001
NM_024757.5(EHMT1):c.2616A>G (p.Gly872=) rs779277999 0.00001
NM_024757.5(EHMT1):c.2820C>T (p.Asp940=) rs765865626 0.00001
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) rs143083438 0.00001
NM_024757.5(EHMT1):c.3059G>A (p.Arg1020His) rs376628665 0.00001
NM_024757.5(EHMT1):c.3291G>A (p.Ala1097=) rs573650226 0.00001
NM_024757.5(EHMT1):c.3599A>G (p.Asn1200Ser) rs201181085 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln) rs1945389965 0.00001
NM_024757.5(EHMT1):c.720C>T (p.Asn240=) rs760100609 0.00001
NM_024757.5(EHMT1):c.97G>T (p.Ala33Ser) rs750654971 0.00001
NM_024757.5(EHMT1):c.1117G>A (p.Glu373Lys) rs1588482536
NM_024757.5(EHMT1):c.1369+239dup rs529662316
NM_024757.5(EHMT1):c.1647+82C>G rs79721954
NM_024757.5(EHMT1):c.2019-17G>A rs375371535
NM_024757.5(EHMT1):c.2382+337C>T rs139763404
NM_024757.5(EHMT1):c.2607+181_2607+182insCTCCCACACAGAGCCAGCTTGGGCCCTCCACGGCGTCCC rs750004538
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.643-13C>G rs2135782538
NM_024757.5(EHMT1):c.824-4T>C rs544787491

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.