ClinVar Miner

List of variants in gene EHMT1 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.2867+60G>A rs11789684 0.50575
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_024757.5(EHMT1):c.2713-117G>A rs11789631 0.49019
NM_024757.5(EHMT1):c.3181-115T>G rs7851955 0.49015
NM_024757.5(EHMT1):c.2712+140A>G rs7871917 0.43192
NM_024757.5(EHMT1):c.22-64A>C rs4072654 0.41200
NM_024757.5(EHMT1):c.1370-276G>A rs10780187 0.34149
NM_024757.5(EHMT1):c.2505+277C>T rs7018515 0.34083
NM_024757.5(EHMT1):c.2607+232A>G rs11137239 0.33038
NM_024757.5(EHMT1):c.2505+185T>C rs4876942 0.33027
NM_024757.5(EHMT1):c.2506-229G>C rs4876946 0.29724
NM_024757.5(EHMT1):c.2506-84G>A rs4876947 0.27829
NM_024757.5(EHMT1):c.1170+65A>T rs4979643 0.24553
NM_024757.5(EHMT1):c.1248+218G>A rs11137202 0.23855
NM_024757.5(EHMT1):c.1791+165C>A rs72766952 0.23804
NM_024757.5(EHMT1):c.1171-136C>T rs10867058 0.23790
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_024757.5(EHMT1):c.3374+89C>T rs4876902 0.20329
NM_024757.5(EHMT1):c.1501+74G>T rs3125795 0.16852
NM_024757.5(EHMT1):c.3462-188T>C rs10283789 0.16174
NM_024757.5(EHMT1):c.824-294A>G rs3125790 0.14900
NM_024757.5(EHMT1):c.823+46C>T rs3125782 0.14800
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_024757.5(EHMT1):c.1501+13G>T rs3125794 0.13335
NM_024757.5(EHMT1):c.3180+106A>G rs73669183 0.10874
NM_024757.5(EHMT1):c.3181-49T>C rs57642928 0.10546
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_024757.5(EHMT1):c.2868-77A>T rs57049934 0.10539
NM_024757.5(EHMT1):c.2868-51C>T rs58155449 0.10519
NM_024757.5(EHMT1):c.2868-55A>G rs60520671 0.10517
NM_024757.5(EHMT1):c.3258+143G>A rs57336652 0.10492
NM_024757.5(EHMT1):c.3258+180G>A rs61174142 0.10481
NM_024757.5(EHMT1):c.2506-255G>A rs12348672 0.07260
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_024757.5(EHMT1):c.1501+304C>T rs77765557 0.05441
NM_024757.5(EHMT1):c.1648-20C>T rs12341990 0.05440
NM_024757.5(EHMT1):c.2193-252G>A rs73576187 0.05312
NM_024757.5(EHMT1):c.2019-74T>A rs7853060 0.05301
NM_024757.5(EHMT1):c.2019-40C>T rs73576128 0.05290
NM_024757.5(EHMT1):c.2383-50G>A rs6559224 0.05287
NM_024757.5(EHMT1):c.2018+303G>A rs7029909 0.05279
NM_024757.5(EHMT1):c.1501+148T>C rs58326032 0.05266
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.2713-174C>T rs117162135 0.04710
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_024757.5(EHMT1):c.981+65C>T rs116060838 0.04447
NM_024757.5(EHMT1):c.642+38A>G rs72766927 0.04225
NM_024757.5(EHMT1):c.2867+152C>T rs79637613 0.04196
NM_024757.5(EHMT1):c.85+194G>A rs113668788 0.02672
NM_024757.5(EHMT1):c.1648-281C>T rs115466291 0.02326
NM_024757.5(EHMT1):c.22-37C>G rs113133543 0.02281
NM_024757.5(EHMT1):c.824-271G>A rs61609571 0.02184
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_024757.5(EHMT1):c.2018+302C>T rs113986767 0.02144
NM_024757.5(EHMT1):c.2713-191T>C rs113906924 0.01616
NM_024757.5(EHMT1):c.2867+241T>C rs113029334 0.01615
NM_024757.5(EHMT1):c.2868-307T>A rs73578859 0.01561
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.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_024757.5(EHMT1):c.1171-116C>T rs142083177 0.00482
NM_024757.5(EHMT1):c.2712+37G>A rs148637906 0.00304
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782 0.00240
NM_024757.5(EHMT1):c.3035+47G>A rs113138915 0.00225
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.823+26T>C rs41309984 0.00157
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.3181-21C>T rs370969704 0.00143
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.2505+44C>T rs149398639 0.00069
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_024757.5(EHMT1):c.1983G>A (p.Ser661=) rs143204067 0.00051
NM_024757.5(EHMT1):c.2506-43T>C rs181945121 0.00048
NM_024757.5(EHMT1):c.85+35G>A rs151087743 0.00046
NM_024757.5(EHMT1):c.1792-42C>T rs370091154 0.00045
NM_024757.5(EHMT1):c.932C>T (p.Thr311Met) rs142727972 0.00036
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.3716+25C>A rs775860055 0.00031
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.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.1792-39A>G rs201749914 0.00020
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
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.1249-11T>C rs561072157 0.00016
NM_024757.5(EHMT1):c.891C>T (p.Ser297=) rs376384316 0.00015
NM_024757.5(EHMT1):c.3374+22G>A rs143421585 0.00014
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_024757.5(EHMT1):c.3462-40G>A rs377215233 0.00008
NM_024757.5(EHMT1):c.2505+24C>T rs150247219 0.00007
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_024757.5(EHMT1):c.*4G>A rs1037254250 0.00006
NM_024757.5(EHMT1):c.1359C>T (p.Ser453=) rs545055517 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.2608-26G>A rs750495413 0.00006
NM_024757.5(EHMT1):c.86-27C>G rs191989888 0.00006
NM_024757.5(EHMT1):c.3226G>A (p.Gly1076Ser) rs749054610 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
GRCh37/hg19 9q34.3(chr9:140607136-140621749)x3
NM_024757.5(EHMT1):c.1170+225dup rs11370621
NM_024757.5(EHMT1):c.1170+276C>G rs3125791
NM_024757.5(EHMT1):c.1370-100T>G rs73574170
NM_024757.5(EHMT1):c.1370-136del rs57629783
NM_024757.5(EHMT1):c.1370-35G>C rs545401254
NM_024757.5(EHMT1):c.1501+108C>G rs3123518
NM_024757.5(EHMT1):c.1502-147A>G rs4876941
NM_024757.5(EHMT1):c.22-217A>G rs11791658
NM_024757.5(EHMT1):c.22-85T>C rs7039441
NM_024757.5(EHMT1):c.2505+1146T>G
NM_024757.5(EHMT1):c.2607+181_2607+182insCTCCCACACAGAGCCAGCTCGGGCCCTCCACGGCGTCCC rs750004538
NM_024757.5(EHMT1):c.2608-343GT[3] rs55802227
NM_024757.5(EHMT1):c.2712+23G>A rs145982136
NM_024757.5(EHMT1):c.2712+30G>A rs374168421
NM_024757.5(EHMT1):c.2713-108T>C rs73669182
NM_024757.5(EHMT1):c.2868-160C>T rs57119641
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3462-125A>G rs10283760
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.642+22C>G rs138785890
NM_024757.5(EHMT1):c.824-3del rs34385417

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