ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP
GRCh38/hg38 9q34.3(chr9:137830545-137836015)x1
NC_000009.11:g.(?_140695312)_(140729425_?)dup
NC_000009.11:g.(?_140728781)_(140729425_?)dup
NM_024757.5(EHMT1):c.*17G>A rs886063744
NM_024757.5(EHMT1):c.*204C>T rs886063745
NM_024757.5(EHMT1):c.*551T>G rs886063746
NM_024757.5(EHMT1):c.*663G>A rs750578794
NM_024757.5(EHMT1):c.*870T>G rs756114316
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr)
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) rs371134699
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) rs797045552
NM_024757.5(EHMT1):c.1100C>T (p.Ala367Val)
NM_024757.5(EHMT1):c.1130C>T (p.Thr377Ile) rs756421024
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) rs532880924
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) rs772187480
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152
NM_024757.5(EHMT1):c.1202C>A (p.Ser401Tyr) rs1554863573
NM_024757.5(EHMT1):c.1222G>C (p.Glu408Gln) rs1564693239
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser)
NM_024757.5(EHMT1):c.1248+1G>A rs1564693344
NM_024757.5(EHMT1):c.1249-11T>C rs561072157
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) rs1564697100
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val)
NM_024757.5(EHMT1):c.1299C>T (p.Thr433=) rs374367377
NM_024757.5(EHMT1):c.1337G>A (p.Arg446Gln) rs745964626
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1382A>G (p.Tyr461Cys) rs576338391
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met)
NM_024757.5(EHMT1):c.1414G>A (p.Ala472Thr)
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) rs1265023925
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) rs1372403007
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) rs757679895
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) rs765396242
NM_024757.5(EHMT1):c.154G>A (p.Gly52Ser)
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg)
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser)
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) rs755711930
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys)
NM_024757.5(EHMT1):c.1752G>T (p.Lys584Asn) rs1064796992
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.1792-9C>A rs1554878665
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu)
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) rs369492404
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn)
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762
NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) rs767536068
NM_024757.5(EHMT1):c.193_198dup (p.Ser65_His66dup) rs756643740
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) rs188452845
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala) rs797045553
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp)
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309
NM_024757.5(EHMT1):c.2096C>T (p.Thr699Met)
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) rs398124403
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539
NM_024757.5(EHMT1):c.2167G>A (p.Ala723Thr) rs886063736
NM_024757.5(EHMT1):c.2175C>T (p.Ile725=) rs527754873
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala)
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.2192+11A>T rs759729046
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu)
NM_024757.5(EHMT1):c.224A>G (p.Asp75Gly)
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) rs1564751310
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser)
NM_024757.5(EHMT1):c.2356G>C (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr) rs1554882071
NM_024757.5(EHMT1):c.2382+5G>A
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile)
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530
NM_024757.5(EHMT1):c.2405G>A (p.Cys802Tyr) rs763767150
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.2509G>A (p.Ala837Thr) rs398124406
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029
NM_024757.5(EHMT1):c.2608-3C>T rs1231552364
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554
NM_024757.5(EHMT1):c.2664C>T (p.Leu888=) rs200849773
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp)
NM_024757.5(EHMT1):c.2691T>G (p.Ser897=) rs794727214
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695
NM_024757.5(EHMT1):c.2712+13C>T rs370446866
NM_024757.5(EHMT1):c.2712C>T (p.Asn904=)
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725
NM_024757.5(EHMT1):c.2779G>A (p.Ala927Thr)
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.2864T>C (p.Val955Ala)
NM_024757.5(EHMT1):c.2882G>A (p.Arg961Gln) rs886063737
NM_024757.5(EHMT1):c.290C>T (p.Ser97Leu)
NM_024757.5(EHMT1):c.2921C>T (p.Thr974Met)
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg)
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr)
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.2962G>A (p.Ala988Thr)
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) rs1554896118
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859
NM_024757.5(EHMT1):c.298_299delinsAT (p.Asp100Ile) rs797044709
NM_024757.5(EHMT1):c.2997C>G (p.Ala999=) rs771261883
NM_024757.5(EHMT1):c.299A>T (p.Asp100Val) rs757024199
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile)
NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) rs773020101
NM_024757.5(EHMT1):c.3035+3G>A rs765407306
NM_024757.5(EHMT1):c.3036G>C (p.Arg1012Ser) rs886063738
NM_024757.5(EHMT1):c.3043G>A (p.Ala1015Thr) rs764291502
NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) rs777106945
NM_024757.5(EHMT1):c.3082G>A (p.Ala1028Thr)
NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) rs765569983
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) rs138824805
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) rs369941047
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482
NM_024757.5(EHMT1):c.3123C>A (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) rs1564811053
NM_024757.5(EHMT1):c.3173A>T (p.His1058Leu) rs1564811142
NM_024757.5(EHMT1):c.3180+5G>A rs377628279
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=)
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.5(EHMT1):c.3214A>G (p.Asn1072Asp) rs886063739
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser)
NM_024757.5(EHMT1):c.3253G>A (p.Asp1085Asn)
NM_024757.5(EHMT1):c.3258+14C>T rs886063740
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp)
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189
NM_024757.5(EHMT1):c.3352C>T (p.Arg1118Cys)
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3374+3G>A
NM_024757.5(EHMT1):c.3374+9C>G rs765227211
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys)
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp)
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=)
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala)
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn)
NM_024757.5(EHMT1):c.3569G>A (p.Arg1190Gln) rs886042261
NM_024757.5(EHMT1):c.3573C>A (p.Phe1191Leu) rs1564845598
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile)
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3611A>T (p.Glu1204Val) rs759840211
NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) rs781134719
NM_024757.5(EHMT1):c.3668G>A (p.Arg1223Gln) rs777746839
NM_024757.5(EHMT1):c.3688C>T (p.Arg1230Cys)
NM_024757.5(EHMT1):c.3732G>C (p.Glu1244Asp)
NM_024757.5(EHMT1):c.3758T>C (p.Leu1253Pro)
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896
NM_024757.5(EHMT1):c.3791G>A (p.Arg1264Gln)
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg)
NM_024757.5(EHMT1):c.3803C>G (p.Ala1268Gly) rs886063741
NM_024757.5(EHMT1):c.3818G>A (p.Arg1273His) rs1564847357
NM_024757.5(EHMT1):c.3833_3841CCCAGGAGG[3] (p.1278_1280AQE[3])
NM_024757.5(EHMT1):c.3834C>A (p.Ala1278=) rs886063742
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408
NM_024757.5(EHMT1):c.3860C>T (p.Pro1287Leu) rs1057518285
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) rs797045556
NM_024757.5(EHMT1):c.3883G>T (p.Ala1295Ser)
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) rs1225363386
NM_024757.5(EHMT1):c.3885del (p.Asp1296fs) rs1554909061
NM_024757.5(EHMT1):c.388C>G (p.Pro130Ala) rs562411087
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.396_397delinsTG (p.Gln133Glu) rs1554846569
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443
NM_024757.5(EHMT1):c.43C>T (p.Pro15Ser) rs727503916
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser)
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val)
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) rs1554846686
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp)
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met)
NM_024757.5(EHMT1):c.514C>T (p.Pro172Ser)
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala)
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609
NM_024757.5(EHMT1):c.533C>A (p.Thr178Asn) rs777497639
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp)
NM_024757.5(EHMT1):c.546G>T (p.Gly182=) rs767742300
NM_024757.5(EHMT1):c.551C>T (p.Ala184Val) rs886063735
NM_024757.5(EHMT1):c.565A>C (p.Arg189=) rs398124409
NM_024757.5(EHMT1):c.566G>C (p.Arg189Thr) rs398124410
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr)
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988
NM_024757.5(EHMT1):c.608C>T (p.Ala203Val) rs1564630797
NM_024757.5(EHMT1):c.610C>T (p.Arg204Cys) rs773281923
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln)
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) rs1554852591
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro)
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg)
NM_024757.5(EHMT1):c.770A>G (p.His257Arg)
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) rs753105081
NM_024757.5(EHMT1):c.86-5G>A rs371370370
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu)
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) rs1564627371
NM_024757.5(EHMT1):c.981+7G>A rs797045557
NM_024757.5(EHMT1):c.985G>C (p.Glu329Gln) rs538516467

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