ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
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.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404 0.00015
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
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.2595C>T (p.Asp865=) rs780742937 0.00007
NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) rs777106945 0.00007
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 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.309G>A (p.Ala103=) rs138824805 0.00005
NM_024757.5(EHMT1):c.1204G>A (p.Val402Met) rs369984436 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.3632G>A (p.Arg1211His) rs751046687 0.00004
NM_024757.5(EHMT1):c.485G>T (p.Gly162Val) rs769036698 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln) rs1294543188 0.00004
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) rs371134699 0.00003
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) rs532880924 0.00003
NM_024757.5(EHMT1):c.2997C>G (p.Ala999=) rs771261883 0.00003
NM_024757.5(EHMT1):c.3266G>A (p.Arg1089Gln) rs1039353637 0.00003
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_024757.5(EHMT1):c.38G>A (p.Gly13Glu) rs925532395 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) rs778447794 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) rs763767150 0.00002
NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met) rs754986694 0.00002
NM_024757.5(EHMT1):c.3668G>A (p.Arg1223Gln) rs777746839 0.00002
NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn) rs778503301 0.00002
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869 0.00001
NM_024757.5(EHMT1):c.1076A>G (p.Asp359Gly) rs1327678176 0.00001
NM_024757.5(EHMT1):c.1130C>T (p.Thr377Ile) rs756421024 0.00001
NM_024757.5(EHMT1):c.1248+1G>A rs1564693344 0.00001
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979 0.00001
NM_024757.5(EHMT1):c.1661C>A (p.Thr554Lys) rs372688489 0.00001
NM_024757.5(EHMT1):c.1690C>T (p.Arg564Cys) rs1157528426 0.00001
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) rs369492404 0.00001
NM_024757.5(EHMT1):c.1883C>T (p.Pro628Leu) rs1399162372 0.00001
NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro) rs764527438 0.00001
NM_024757.5(EHMT1):c.200C>G (p.Ala67Gly) rs757531969 0.00001
NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) rs398124403 0.00001
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) rs753928723 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_024757.5(EHMT1):c.2509G>A (p.Ala837Thr) rs398124406 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn) rs745973990 0.00001
NM_024757.5(EHMT1):c.2965C>G (p.Leu989Val) rs1217060988 0.00001
NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys) rs765569983 0.00001
NM_024757.5(EHMT1):c.3108C>G (p.Ser1036Arg) rs1954659022 0.00001
NM_024757.5(EHMT1):c.3180+5G>A rs377628279 0.00001
NM_024757.5(EHMT1):c.3212G>C (p.Ser1071Thr) rs1427438113 0.00001
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274 0.00001
NM_024757.5(EHMT1):c.3422G>A (p.Arg1141Gln) rs745374795 0.00001
NM_024757.5(EHMT1):c.3659G>A (p.Arg1220Gln) rs761138496 0.00001
NM_024757.5(EHMT1):c.365G>T (p.Ser122Ile) rs1407532809 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.43C>T (p.Pro15Ser) rs727503916 0.00001
NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu) rs1389665235 0.00001
NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser) rs770718072 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_024757.5(EHMT1):c.592G>C (p.Val198Leu) rs761554206 0.00001
NM_024757.5(EHMT1):c.745C>G (p.Leu249Val) rs1190104648 0.00001
NM_024757.5(EHMT1):c.981+5G>A rs867504844 0.00001
NM_024757.5(EHMT1):c.101C>T (p.Ala34Val) rs546468286
NM_024757.5(EHMT1):c.1046A>T (p.Asp349Val)
NM_024757.5(EHMT1):c.105T>G (p.Asp35Glu) rs1308596650
NM_024757.5(EHMT1):c.1069G>C (p.Glu357Gln)
NM_024757.5(EHMT1):c.1071G>T (p.Glu357Asp)
NM_024757.5(EHMT1):c.1106C>A (p.Ala369Glu)
NM_024757.5(EHMT1):c.1148C>G (p.Ser383Trp)
NM_024757.5(EHMT1):c.1218G>C (p.Glu406Asp)
NM_024757.5(EHMT1):c.1226_1228dup (p.Glu409_Gly410insGlu)
NM_024757.5(EHMT1):c.1306C>A (p.Pro436Thr)
NM_024757.5(EHMT1):c.1361G>T (p.Gly454Val)
NM_024757.5(EHMT1):c.1451T>C (p.Leu484Pro)
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.1486T>C (p.Ser496Pro)
NM_024757.5(EHMT1):c.164A>G (p.Asn55Ser) rs755559809
NM_024757.5(EHMT1):c.1661C>T (p.Thr554Ile) rs372688489
NM_024757.5(EHMT1):c.1673T>C (p.Val558Ala) rs1400394207
NM_024757.5(EHMT1):c.1745T>G (p.Met582Arg) rs2136649138
NM_024757.5(EHMT1):c.1752G>T (p.Lys584Asn) rs1064796992
NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys)
NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) rs138292762
NM_024757.5(EHMT1):c.1896G>T (p.Glu632Asp)
NM_024757.5(EHMT1):c.1901G>T (p.Ser634Ile) rs1486960639
NM_024757.5(EHMT1):c.1976A>G (p.Lys659Arg)
NM_024757.5(EHMT1):c.2016C>T (p.Gly672=) rs2136686978
NM_024757.5(EHMT1):c.2054T>C (p.Leu685Pro)
NM_024757.5(EHMT1):c.2059G>A (p.Gly687Ser) rs1267268829
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2207G>A (p.Arg736His) rs1588663770
NM_024757.5(EHMT1):c.2236G>A (p.Ala746Thr) rs970059219
NM_024757.5(EHMT1):c.2272C>G (p.Leu758Val) rs1951235377
NM_024757.5(EHMT1):c.2281G>A (p.Gly761Arg)
NM_024757.5(EHMT1):c.2332C>T (p.His778Tyr)
NM_024757.5(EHMT1):c.2335G>A (p.Ala779Thr) rs1951621210
NM_024757.5(EHMT1):c.233G>C (p.Arg78Thr)
NM_024757.5(EHMT1):c.2356G>C (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile) rs754504122
NM_024757.5(EHMT1):c.2405G>A (p.Cys802Tyr) rs763767150
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2473C>T (p.Leu825Phe) rs1386875637
NM_024757.5(EHMT1):c.2476A>C (p.Ile826Leu) rs2137109750
NM_024757.5(EHMT1):c.2534T>C (p.Leu845Pro)
NM_024757.5(EHMT1):c.2544G>T (p.Lys848Asn) rs1252301168
NM_024757.5(EHMT1):c.2555A>G (p.Tyr852Cys)
NM_024757.5(EHMT1):c.2574G>A (p.Leu858=)
NM_024757.5(EHMT1):c.2594A>C (p.Asp865Ala)
NM_024757.5(EHMT1):c.260C>G (p.Thr87Arg) rs1945359738
NM_024757.5(EHMT1):c.2624C>G (p.Thr875Arg) rs1953423865
NM_024757.5(EHMT1):c.2651A>G (p.Lys884Arg) rs2137381875
NM_024757.5(EHMT1):c.2656G>T (p.Val886Leu) rs146269774
NM_024757.5(EHMT1):c.2672T>C (p.Leu891Pro) rs2137382479
NM_024757.5(EHMT1):c.2691T>G (p.Ser897=) rs794727214
NM_024757.5(EHMT1):c.2713-3C>G rs2137670642
NM_024757.5(EHMT1):c.2719A>G (p.Asn907Asp)
NM_024757.5(EHMT1):c.275C>A (p.Ala92Glu)
NM_024757.5(EHMT1):c.2782G>A (p.Ala928Thr)
NM_024757.5(EHMT1):c.2843G>A (p.Arg948Gln) rs758210139
NM_024757.5(EHMT1):c.2852G>A (p.Arg951His)
NM_024757.5(EHMT1):c.2875C>T (p.Leu959Phe)
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.298G>C (p.Asp100His) rs540121859
NM_024757.5(EHMT1):c.298_299delinsAT (p.Asp100Ile) rs797044709
NM_024757.5(EHMT1):c.2993C>G (p.Ser998Trp)
NM_024757.5(EHMT1):c.299A>T (p.Asp100Val) rs757024199
NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) rs773020101
NM_024757.5(EHMT1):c.3028G>C (p.Val1010Leu)
NM_024757.5(EHMT1):c.3136G>A (p.Val1046Met)
NM_024757.5(EHMT1):c.3190T>C (p.Cys1064Arg) rs2137756056
NM_024757.5(EHMT1):c.3209C>G (p.Ser1070Cys)
NM_024757.5(EHMT1):c.3241C>T (p.Arg1081Cys)
NM_024757.5(EHMT1):c.3245G>C (p.Cys1082Ser)
NM_024757.5(EHMT1):c.3280T>A (p.Phe1094Ile) rs1588868863
NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe) rs780102096
NM_024757.5(EHMT1):c.3405C>A (p.Asp1135Glu)
NM_024757.5(EHMT1):c.3416G>T (p.Gly1139Val)
NM_024757.5(EHMT1):c.3487T>C (p.Ser1163Pro) rs2132809316
NM_024757.5(EHMT1):c.353C>G (p.Ser118Cys)
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.3563A>G (p.Asp1188Gly)
NM_024757.5(EHMT1):c.3569G>A (p.Arg1190Gln) rs886042261
NM_024757.5(EHMT1):c.3574T>C (p.Tyr1192His)
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.37G>T (p.Gly13Trp) rs781470751
NM_024757.5(EHMT1):c.3808del (p.Leu1270fs)
NM_024757.5(EHMT1):c.3833CCCAGGAGG[1] (p.1278AQE[1]) rs751283937
NM_024757.5(EHMT1):c.3869G>A (p.Ser1290Asn) rs2133163039
NM_024757.5(EHMT1):c.3885del (p.Asp1296fs) rs1554909061
NM_024757.5(EHMT1):c.388C>G (p.Pro130Ala) rs562411087
NM_024757.5(EHMT1):c.3890C>G (p.Pro1297Arg)
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.401C>T (p.Ala134Val)
NM_024757.5(EHMT1):c.40del (p.Glu14fs) rs1564618717
NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile)
NM_024757.5(EHMT1):c.427C>G (p.Leu143Val)
NM_024757.5(EHMT1):c.461C>A (p.Thr154Asn) rs2135509210
NM_024757.5(EHMT1):c.494C>T (p.Pro165Leu) rs1945389965
NM_024757.5(EHMT1):c.512C>G (p.Thr171Arg) rs374127714
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp) rs1588329836
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.632T>C (p.Val211Ala) rs764569458
NM_024757.5(EHMT1):c.694G>A (p.Glu232Lys) rs1946813823
NM_024757.5(EHMT1):c.744G>C (p.Gln248His)
NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg) rs775614771
NM_024757.5(EHMT1):c.822A>G (p.Thr274=) rs2135785300
NM_024757.5(EHMT1):c.826T>C (p.Cys276Arg) rs2136052224
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024757.5(EHMT1):c.835T>G (p.Phe279Val) rs1588478740
NM_024757.5(EHMT1):c.85+5G>A rs2135389328
NM_024757.5(EHMT1):c.872G>A (p.Arg291Gln) rs2136053069
NM_024757.5(EHMT1):c.887A>G (p.Tyr296Cys) rs1363997058
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176
NM_024757.5(EHMT1):c.949A>G (p.Lys317Glu) rs771464978
NM_024757.5(EHMT1):c.94A>G (p.Met32Val) rs762798813

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