ClinVar Miner

List of variants in gene EHMT1 studied for not provided

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Gene type:
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Total variants: 106
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:140607136-140621749)x3
NM_024757.4(EHMT1):c.3258+1delG rs1554897110
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) rs371134699
NM_024757.5(EHMT1):c.1059_1060AG[1] (p.Glu354fs) rs1064796085
NM_024757.5(EHMT1):c.1117G>A (p.Glu373Lys)
NM_024757.5(EHMT1):c.1122dup (p.Ser375fs) rs1554859292
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.1159C>T (p.Arg387Cys) rs532880924
NM_024757.5(EHMT1):c.1248+1G>A rs1564693344
NM_024757.5(EHMT1):c.1345_1348AGAA[1] (p.Lys450fs) rs886042181
NM_024757.5(EHMT1):c.1420G>T (p.Gly474Ter) rs1564704133
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.1602dup (p.Leu535fs) rs1554871182
NM_024757.5(EHMT1):c.1752G>T (p.Lys584Asn) rs1064796992
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) rs369492404
NM_024757.5(EHMT1):c.181_190delinsCCATT (p.Ser61fs) rs1554846052
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
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.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) rs188452845
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309
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.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.2222del (p.Gln741fs) rs886041797
NM_024757.5(EHMT1):c.2356G>C (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.2405G>A (p.Cys802Tyr) rs763767150
NM_024757.5(EHMT1):c.2408C>G (p.Ser803Ter) rs886042018
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.2431_2435delinsTGGG (p.Met811fs) rs886042048
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870
NM_024757.5(EHMT1):c.2506-2A>G rs1554888910
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.2622G>A (p.Trp874Ter) rs1057524142
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.2704C>T (p.Arg902Ter) rs886041844
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.2712+1G>C rs1057518849
NM_024757.5(EHMT1):c.2713-1G>A rs1554895172
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.5(EHMT1):c.2867+5G>A rs886039703
NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.2950C>T (p.Gln984Ter) rs1085307843
NM_024757.5(EHMT1):c.2958G>A (p.Trp986Ter) rs1554896104
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
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>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) rs773020101
NM_024757.5(EHMT1):c.302C>G (p.Ser101Ter) rs1085307748
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs) rs1085307734
NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) rs777106945
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.3122_3123TC[2] (p.Gln1043fs) rs1554896575
NM_024757.5(EHMT1):c.3127C>T (p.Gln1043Ter) rs1064796996
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.3180+5G>A rs377628279
NM_024757.5(EHMT1):c.3259-1G>A rs1554897763
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189
NM_024757.5(EHMT1):c.3342delinsAAG (p.Asn1114fs) rs886041450
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786
NM_024757.5(EHMT1):c.3462-10C>G rs752178081
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.355del (p.Val119fs) rs1064793748
NM_024757.5(EHMT1):c.3569G>A (p.Arg1190Gln) rs886042261
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.3626_3631dup (p.Pro1209_Val1210dup) rs1554908367
NM_024757.5(EHMT1):c.3649C>T (p.Gln1217Ter) rs1554908411
NM_024757.5(EHMT1):c.3668G>A (p.Arg1223Gln) rs777746839
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408
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.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.417dup (p.Thr140fs) rs1131691715
NM_024757.5(EHMT1):c.43C>T (p.Pro15Ser) rs727503916
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609
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.589G>A (p.Asp197Asn) rs774174988
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) rs786205601
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.682del (p.Arg228fs) rs1554852597
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.733G>T (p.Gly245Ter) rs1554852648
NM_024757.5(EHMT1):c.756del (p.Phe253fs) rs1554852664
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) rs1554852664
NM_024757.5(EHMT1):c.824-1G>T rs1354730657
NM_024757.5(EHMT1):c.86-5G>A rs371370370
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176

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