ClinVar Miner

List of variants in gene EHMT1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
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.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
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.129A>T (p.Ala43=) rs76684726 0.04476
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
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.316C>G (p.Gln106Glu) rs144603232 0.00489
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.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
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.576G>A (p.Pro192=) rs574514175 0.00029
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_024757.5(EHMT1):c.1176C>T (p.Asp392=) rs373083497 0.00016
NM_024757.5(EHMT1):c.85+9G>A rs566701810 0.00016
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 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.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.2996C>T (p.Ala999Val) rs747347498 0.00005
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) rs138824805 0.00005
NM_024757.5(EHMT1):c.2712+9G>A rs766635512 0.00004
NM_024757.5(EHMT1):c.1014C>T (p.His338=) rs753010324 0.00003
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668 0.00003
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.2925C>T (p.Pro975=) rs772612738 0.00003
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024757.5(EHMT1):c.3105C>T (p.Pro1035=) rs763284674 0.00002
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) rs753105081 0.00002
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.358A>G (p.Ile120Val) rs369253537 0.00001
NM_024757.5(EHMT1):c.672T>C (p.Val224=) rs779765731 0.00001
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) rs797045552
NM_024757.5(EHMT1):c.162C>G (p.Thr54=) rs200372336
NM_024757.5(EHMT1):c.1858C>A (p.Arg620=) rs137852718
NM_024757.5(EHMT1):c.2010A>T (p.Thr670=) rs370681959
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala) rs797045553
NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr) rs1554882071
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.300_305del (p.Asp100_Ser101del) rs780324829
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3123C>A (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3374+9C>G rs765227211
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) rs797045556
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.981+7G>A rs797045557

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