ClinVar Miner

List of variants reported as uncertain significance for Kleefstra syndrome 1 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143 0.00009
NM_024757.5(EHMT1):c.1614C>A (p.Asn538Lys) rs752162672 0.00004
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn) rs371824384 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.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) rs763767150 0.00002
NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn) rs1346178132 0.00002
NM_024757.5(EHMT1):c.544G>A (p.Gly182Arg) rs745866611 0.00002
NM_024757.5(EHMT1):c.716A>G (p.Lys239Arg) rs778733047 0.00002
NM_024757.5(EHMT1):c.766C>T (p.Leu256Phe) rs769157656 0.00002
NM_024757.5(EHMT1):c.100G>A (p.Ala34Thr) rs761039277 0.00001
NM_024757.5(EHMT1):c.116C>G (p.Ala39Gly) rs375620256 0.00001
NM_024757.5(EHMT1):c.1170+3A>G rs767691870 0.00001
NM_024757.5(EHMT1):c.1379C>T (p.Ser460Leu) rs1484936339 0.00001
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) rs1265023925 0.00001
NM_024757.5(EHMT1):c.1459C>G (p.Leu487Val) rs1949508960 0.00001
NM_024757.5(EHMT1):c.145G>T (p.Ala49Ser) rs1372403007 0.00001
NM_024757.5(EHMT1):c.1471G>A (p.Val491Ile) rs780345353 0.00001
NM_024757.5(EHMT1):c.1493A>G (p.Gln498Arg) rs1949510530 0.00001
NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp) rs779709777 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.2382+4C>T rs752270107 0.00001
NM_024757.5(EHMT1):c.2385G>A (p.Ala795=) rs1425514936 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_024757.5(EHMT1):c.242C>T (p.Pro81Leu) rs1191067584 0.00001
NM_024757.5(EHMT1):c.2607+4C>T rs1413443727 0.00001
NM_024757.5(EHMT1):c.275C>G (p.Ala92Gly) rs1361231265 0.00001
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp) rs368702408 0.00001
NM_024757.5(EHMT1):c.2859C>G (p.Asp953Glu) rs1483688461 0.00001
NM_024757.5(EHMT1):c.2992T>G (p.Ser998Ala) rs1330826129 0.00001
NM_024757.5(EHMT1):c.3074G>C (p.Cys1025Ser) rs371968733 0.00001
NM_024757.5(EHMT1):c.3143C>G (p.Ser1048Cys) rs778383445 0.00001
NM_024757.5(EHMT1):c.3221T>C (p.Met1074Thr) rs756062534 0.00001
NM_024757.5(EHMT1):c.3242G>A (p.Arg1081His) rs1274172181 0.00001
NM_024757.5(EHMT1):c.3259-9T>G rs761418994 0.00001
NM_024757.5(EHMT1):c.3374+3G>A rs759589106 0.00001
NM_024757.5(EHMT1):c.3394C>T (p.Arg1132Trp) rs1230494244 0.00001
NM_024757.5(EHMT1):c.349A>G (p.Thr117Ala) rs1430981983 0.00001
NM_024757.5(EHMT1):c.358A>G (p.Ile120Val) rs369253537 0.00001
NM_024757.5(EHMT1):c.3599A>G (p.Asn1200Ser) rs201181085 0.00001
NM_024757.5(EHMT1):c.365G>T (p.Ser122Ile) rs1407532809 0.00001
NM_024757.5(EHMT1):c.3765C>G (p.Ser1255Arg) rs750510906 0.00001
NM_024757.5(EHMT1):c.3830C>T (p.Ala1277Val) rs1481748789 0.00001
NM_024757.5(EHMT1):c.3838G>C (p.Glu1280Gln) rs1215972773 0.00001
NM_024757.5(EHMT1):c.3850G>A (p.Asp1284Asn) rs1193875824 0.00001
NM_024757.5(EHMT1):c.3884C>T (p.Ala1295Val) rs1225363386 0.00001
NM_024757.5(EHMT1):c.403C>G (p.Gln135Glu) rs1046702208 0.00001
NM_024757.5(EHMT1):c.500C>A (p.Ala167Asp) rs760239482 0.00001
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) rs786205601 0.00001
NM_024757.5(EHMT1):c.680C>T (p.Ala227Val) rs541099226 0.00001
NM_024757.5(EHMT1):c.745C>G (p.Leu249Val) rs1190104648 0.00001
NM_024757.5(EHMT1):c.808A>G (p.Thr270Ala) rs760466657 0.00001
NM_024757.5(EHMT1):c.981+5G>A rs867504844 0.00001
NM_024757.5(EHMT1):c.988A>G (p.Lys330Glu) rs1948327170 0.00001
NC_000009.11:g.(?_136218768)_(141016451_?)dup
NC_000009.11:g.(?_140513481)_(140513521_?)dup
NC_000009.11:g.(?_140605399)_(140729405_?)dup
NC_000009.11:g.(?_140637803)_(141016451_?)dup
NC_000009.11:g.(?_140695312)_(140729425_?)dup
NC_000009.11:g.(?_140728781)_(140729425_?)dup
NM_024757.5(EHMT1):c.103G>C (p.Asp35His)
NM_024757.5(EHMT1):c.104A>T (p.Asp35Val)
NM_024757.5(EHMT1):c.105T>A (p.Asp35Glu)
NM_024757.5(EHMT1):c.105T>G (p.Asp35Glu) rs1308596650
NM_024757.5(EHMT1):c.1064A>C (p.Glu355Ala)
NM_024757.5(EHMT1):c.1077C>G (p.Asp359Glu) rs189753830
NM_024757.5(EHMT1):c.1102G>A (p.Ala368Thr)
NM_024757.5(EHMT1):c.1109T>G (p.Phe370Cys)
NM_024757.5(EHMT1):c.1123A>G (p.Ser375Gly)
NM_024757.5(EHMT1):c.1126A>T (p.Arg376Trp)
NM_024757.5(EHMT1):c.1143C>A (p.Ser381Arg)
NM_024757.5(EHMT1):c.1151A>C (p.Glu384Ala)
NM_024757.5(EHMT1):c.1151A>G (p.Glu384Gly)
NM_024757.5(EHMT1):c.1166A>G (p.Gln389Arg)
NM_024757.5(EHMT1):c.1177G>T (p.Gly393Trp) rs772187480
NM_024757.5(EHMT1):c.1195_1197del (p.Gln399del) rs2136190348
NM_024757.5(EHMT1):c.1199A>C (p.Glu400Ala)
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.1232G>T (p.Gly411Val)
NM_024757.5(EHMT1):c.1253C>T (p.Ser418Leu)
NM_024757.5(EHMT1):c.1256A>G (p.Glu419Gly) rs2136218441
NM_024757.5(EHMT1):c.1265T>G (p.Ile422Ser) rs1564697100
NM_024757.5(EHMT1):c.1276T>C (p.Phe426Leu)
NM_024757.5(EHMT1):c.1279C>T (p.Leu427Phe) rs1949203789
NM_024757.5(EHMT1):c.127G>A (p.Ala43Thr)
NM_024757.5(EHMT1):c.1288A>G (p.Lys430Glu)
NM_024757.5(EHMT1):c.1296G>C (p.Lys432Asn)
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.1321_1322delinsAA (p.Ala441Asn) rs1949206518
NM_024757.5(EHMT1):c.1344T>G (p.Ser448Arg) rs1192059382
NM_024757.5(EHMT1):c.1354C>T (p.Pro452Ser)
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) rs545055517
NM_024757.5(EHMT1):c.1366C>T (p.Leu456Phe)
NM_024757.5(EHMT1):c.1369G>A (p.Gly457Ser) rs1258115618
NM_024757.5(EHMT1):c.1373C>G (p.Ser458Cys)
NM_024757.5(EHMT1):c.137C>G (p.Ala46Gly)
NM_024757.5(EHMT1):c.1381T>C (p.Tyr461His) rs781361552
NM_024757.5(EHMT1):c.1382A>T (p.Tyr461Phe) rs576338391
NM_024757.5(EHMT1):c.1398A>T (p.Gly466=) rs1949503931
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn) rs1050977100
NM_024757.5(EHMT1):c.1409A>G (p.Gln470Arg)
NM_024757.5(EHMT1):c.1415C>T (p.Ala472Val)
NM_024757.5(EHMT1):c.142A>C (p.Met48Leu) rs145206240
NM_024757.5(EHMT1):c.1438A>T (p.Met480Leu) rs150398744
NM_024757.5(EHMT1):c.1456_1457delinsAA (p.Ser486Asn) rs1564704339
NM_024757.5(EHMT1):c.145G>A (p.Ala49Thr) rs1372403007
NM_024757.5(EHMT1):c.146C>T (p.Ala49Val)
NM_024757.5(EHMT1):c.14A>G (p.Asp5Gly)
NM_024757.5(EHMT1):c.1501+3G>C
NM_024757.5(EHMT1):c.1516C>T (p.Pro506Ser)
NM_024757.5(EHMT1):c.1538G>A (p.Gly513Asp) rs2136356681
NM_024757.5(EHMT1):c.1544A>G (p.Gln515Arg) rs2136356874
NM_024757.5(EHMT1):c.1570A>T (p.Met524Leu) rs2136357245
NM_024757.5(EHMT1):c.1589G>A (p.Arg530Gln)
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup) rs1949928538
NM_024757.5(EHMT1):c.1600A>G (p.Thr534Ala)
NM_024757.5(EHMT1):c.1601C>T (p.Thr534Ile) rs1949929524
NM_024757.5(EHMT1):c.1604T>C (p.Leu535Pro) rs1172239495
NM_024757.5(EHMT1):c.1607_1631delinsTTGTTGGCCAGTG (p.Ala536_Glu544delinsValValGlyGlnTrp)
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser) rs1588581251
NM_024757.5(EHMT1):c.1625C>G (p.Ala542Gly)
NM_024757.5(EHMT1):c.1634G>A (p.Ser545Asn)
NM_024757.5(EHMT1):c.164A>G (p.Asn55Ser) rs755559809
NM_024757.5(EHMT1):c.1661C>G (p.Thr554Arg)
NM_024757.5(EHMT1):c.1673T>C (p.Val558Ala) rs1400394207
NM_024757.5(EHMT1):c.167G>T (p.Gly56Val)
NM_024757.5(EHMT1):c.1688T>C (p.Met563Thr) rs1950867829
NM_024757.5(EHMT1):c.170C>G (p.Ser57Cys) rs1245871526
NM_024757.5(EHMT1):c.1729G>T (p.Asp577Tyr) rs1950869646
NM_024757.5(EHMT1):c.172T>C (p.Cys58Arg)
NM_024757.5(EHMT1):c.173G>T (p.Cys58Phe) rs1188644255
NM_024757.5(EHMT1):c.1783T>C (p.Cys595Arg)
NM_024757.5(EHMT1):c.17C>T (p.Ala6Val) rs2133371747
NM_024757.5(EHMT1):c.1811A>G (p.Gln604Arg)
NM_024757.5(EHMT1):c.1813C>T (p.Pro605Ser) rs1175517635
NM_024757.5(EHMT1):c.1820G>C (p.Ser607Thr) rs2136683755
NM_024757.5(EHMT1):c.1844A>G (p.Lys615Arg)
NM_024757.5(EHMT1):c.1859G>T (p.Arg620Leu)
NM_024757.5(EHMT1):c.1864A>G (p.Asn622Asp)
NM_024757.5(EHMT1):c.187G>A (p.Ala63Thr)
NM_024757.5(EHMT1):c.1896G>T (p.Glu632Asp)
NM_024757.5(EHMT1):c.190A>G (p.Ser64Gly)
NM_024757.5(EHMT1):c.1922C>T (p.Thr641Met) rs1588649675
NM_024757.5(EHMT1):c.1922_1924dup (p.Thr641dup) rs1950992189
NM_024757.5(EHMT1):c.1949C>T (p.Thr650Ile)
NM_024757.5(EHMT1):c.1951G>C (p.Val651Leu)
NM_024757.5(EHMT1):c.1957C>G (p.Pro653Ala)
NM_024757.5(EHMT1):c.196C>G (p.His66Asp)
NM_024757.5(EHMT1):c.1973A>G (p.Glu658Gly) rs1950994845
NM_024757.5(EHMT1):c.1975A>G (p.Lys659Glu)
NM_024757.5(EHMT1):c.1993G>A (p.Gly665Ser) rs1950996044
NM_024757.5(EHMT1):c.1997G>C (p.Arg666Thr) rs1588650026
NM_024757.5(EHMT1):c.19G>A (p.Glu7Lys)
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala) rs797045553
NM_024757.5(EHMT1):c.2015G>A (p.Gly672Asp) rs1588650182
NM_024757.5(EHMT1):c.2023G>A (p.Ala675Thr) rs1275795367
NM_024757.5(EHMT1):c.2027G>T (p.Gly676Val)
NM_024757.5(EHMT1):c.2053C>A (p.Leu685Met)
NM_024757.5(EHMT1):c.2059G>A (p.Gly687Ser) rs1267268829
NM_024757.5(EHMT1):c.2060G>A (p.Gly687Asp) rs748545367
NM_024757.5(EHMT1):c.2063C>T (p.Ala688Val) rs1951084614
NM_024757.5(EHMT1):c.2080G>A (p.Glu694Lys) rs1229220724
NM_024757.5(EHMT1):c.21+3G>T rs2133371890
NM_024757.5(EHMT1):c.2122_2127dup (p.Pro709_Gly710insThrPro)
NM_024757.5(EHMT1):c.2123C>T (p.Thr708Ile)
NM_024757.5(EHMT1):c.213_214delinsTA (p.Lys71_His72delinsAsnAsn)
NM_024757.5(EHMT1):c.2155A>G (p.Thr719Ala)
NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp)
NM_024757.5(EHMT1):c.2167G>A (p.Ala723Thr) rs886063736
NM_024757.5(EHMT1):c.2168C>T (p.Ala723Val) rs1158157805
NM_024757.5(EHMT1):c.2176G>A (p.Ala726Thr)
NM_024757.5(EHMT1):c.2179C>G (p.Leu727Val) rs1951092049
NM_024757.5(EHMT1):c.2206C>T (p.Arg736Cys)
NM_024757.5(EHMT1):c.221A>T (p.Gln74Leu)
NM_024757.5(EHMT1):c.2236G>A (p.Ala746Thr) rs970059219
NM_024757.5(EHMT1):c.225C>G (p.Asp75Glu)
NM_024757.5(EHMT1):c.2272C>G (p.Leu758Val) rs1951235377
NM_024757.5(EHMT1):c.2276-10T>G
NM_024757.5(EHMT1):c.2285T>C (p.Ile762Thr)
NM_024757.5(EHMT1):c.229G>C (p.Ala77Pro)
NM_024757.5(EHMT1):c.230C>A (p.Ala77Glu)
NM_024757.5(EHMT1):c.230C>T (p.Ala77Val)
NM_024757.5(EHMT1):c.2313G>C (p.Gln771His)
NM_024757.5(EHMT1):c.2320C>A (p.Arg774Ser) rs1951620356
NM_024757.5(EHMT1):c.2324C>G (p.Ser775Cys)
NM_024757.5(EHMT1):c.2335G>A (p.Ala779Thr) rs1951621210
NM_024757.5(EHMT1):c.2338G>A (p.Ala780Thr) rs1951621506
NM_024757.5(EHMT1):c.233G>C (p.Arg78Thr)
NM_024757.5(EHMT1):c.2347G>T (p.Ala783Ser) rs1564751310
NM_024757.5(EHMT1):c.2356G>C (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.2356G>T (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.2369A>T (p.His790Leu)
NM_024757.5(EHMT1):c.2374C>G (p.Leu792Val)
NM_024757.5(EHMT1):c.2398G>A (p.Asp800Asn)
NM_024757.5(EHMT1):c.2402_2403delinsTG (p.Thr801Met)
NM_024757.5(EHMT1):c.247G>A (p.Asp83Asn) rs746759694
NM_024757.5(EHMT1):c.248A>G (p.Asp83Gly) rs770735510
NM_024757.5(EHMT1):c.248A>T (p.Asp83Val)
NM_024757.5(EHMT1):c.249T>A (p.Asp83Glu) rs1292672367
NM_024757.5(EHMT1):c.2505G>T (p.Lys835Asn)
NM_024757.5(EHMT1):c.2506-3C>T
NM_024757.5(EHMT1):c.2509G>T (p.Ala837Ser) rs398124406
NM_024757.5(EHMT1):c.256A>C (p.Asn86His)
NM_024757.5(EHMT1):c.259A>G (p.Thr87Ala)
NM_024757.5(EHMT1):c.2607+3A>G
NM_024757.5(EHMT1):c.2608-3C>T rs1231552364
NM_024757.5(EHMT1):c.260C>G (p.Thr87Arg) rs1945359738
NM_024757.5(EHMT1):c.2614G>A (p.Gly872Arg) rs1270766408
NM_024757.5(EHMT1):c.2629A>G (p.Met877Val) rs1953424359
NM_024757.5(EHMT1):c.2641A>G (p.Thr881Ala) rs1953424718
NM_024757.5(EHMT1):c.2656G>T (p.Val886Leu) rs146269774
NM_024757.5(EHMT1):c.2687G>A (p.Gly896Asp) rs1953427756
NM_024757.5(EHMT1):c.268C>G (p.Arg90Gly) rs568424578
NM_024757.5(EHMT1):c.2690C>G (p.Ser897Cys)
NM_024757.5(EHMT1):c.2712+2dup rs1564788979
NM_024757.5(EHMT1):c.2716G>A (p.Glu906Lys) rs2137670696
NM_024757.5(EHMT1):c.271A>G (p.Ile91Val)
NM_024757.5(EHMT1):c.272T>G (p.Ile91Arg)
NM_024757.5(EHMT1):c.2756T>A (p.Val919Glu) rs755525365
NM_024757.5(EHMT1):c.275C>T (p.Ala92Val)
NM_024757.5(EHMT1):c.2761A>G (p.Ile921Val) rs780048403
NM_024757.5(EHMT1):c.2787G>C (p.Lys929Asn) rs1954482984
NM_024757.5(EHMT1):c.2792A>C (p.Asp931Ala)
NM_024757.5(EHMT1):c.280A>C (p.Asn94His)
NM_024757.5(EHMT1):c.2814C>G (p.His938Gln) rs151024617
NM_024757.5(EHMT1):c.2827C>G (p.Leu943Val)
NM_024757.5(EHMT1):c.283G>A (p.Gly95Arg) rs757859040
NM_024757.5(EHMT1):c.2857G>T (p.Asp953Tyr) rs545307226
NM_024757.5(EHMT1):c.2866G>A (p.Val956Ile)
NM_024757.5(EHMT1):c.2882G>A (p.Arg961Gln) rs886063737
NM_024757.5(EHMT1):c.2923C>G (p.Pro975Ala)
NM_024757.5(EHMT1):c.2948C>A (p.Ser983Tyr) rs763031759
NM_024757.5(EHMT1):c.2953G>A (p.Val985Met)
NM_024757.5(EHMT1):c.2963C>T (p.Ala988Val) rs1554896118
NM_024757.5(EHMT1):c.2974A>G (p.Ser992Gly) rs1954625494
NM_024757.5(EHMT1):c.2975G>A (p.Ser992Asn) rs1954625628
NM_024757.5(EHMT1):c.2980G>A (p.Ala994Thr) rs779016395
NM_024757.5(EHMT1):c.298_299delinsAT (p.Asp100Ile) rs797044709
NM_024757.5(EHMT1):c.2996C>G (p.Ala999Gly)
NM_024757.5(EHMT1):c.2T>G (p.Met1Arg) rs1185800023
NM_024757.5(EHMT1):c.3016G>T (p.Val1006Leu)
NM_024757.5(EHMT1):c.3037G>T (p.Asp1013Tyr) rs1954652534
NM_024757.5(EHMT1):c.3059G>T (p.Arg1020Leu)
NM_024757.5(EHMT1):c.308C>G (p.Ala103Gly) rs781024598
NM_024757.5(EHMT1):c.3101G>T (p.Cys1034Phe)
NM_024757.5(EHMT1):c.3134G>A (p.Cys1045Tyr)
NM_024757.5(EHMT1):c.3145C>T (p.Pro1049Ser)
NM_024757.5(EHMT1):c.3148A>G (p.Met1050Val) rs1564811053
NM_024757.5(EHMT1):c.3154A>G (p.Ile1052Val)
NM_024757.5(EHMT1):c.3170C>T (p.Thr1057Ile)
NM_024757.5(EHMT1):c.3173A>G (p.His1058Arg)
NM_024757.5(EHMT1):c.3174_3175delinsCG (p.Leu1059Val) rs1954663658
NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val)
NM_024757.5(EHMT1):c.3180+4A>G
NM_024757.5(EHMT1):c.3187G>T (p.Val1063Leu)
NM_024757.5(EHMT1):c.3196G>A (p.Asp1066Asn)
NM_024757.5(EHMT1):c.3213C>A (p.Ser1071Arg)
NM_024757.5(EHMT1):c.3220A>G (p.Met1074Val)
NM_024757.5(EHMT1):c.323A>G (p.His108Arg)
NM_024757.5(EHMT1):c.3240G>A (p.Met1080Ile)
NM_024757.5(EHMT1):c.3241C>T (p.Arg1081Cys)
NM_024757.5(EHMT1):c.3249G>C (p.Trp1083Cys)
NM_024757.5(EHMT1):c.3253_3255del (p.Asp1085del)
NM_024757.5(EHMT1):c.3275C>G (p.Pro1092Arg)
NM_024757.5(EHMT1):c.3295C>T (p.Pro1099Ser)
NM_024757.5(EHMT1):c.3296C>T (p.Pro1099Leu) rs1954888663
NM_024757.5(EHMT1):c.3309C>G (p.Phe1103Leu)
NM_024757.5(EHMT1):c.3346C>G (p.Arg1116Gly)
NM_024757.5(EHMT1):c.3352C>G (p.Arg1118Gly) rs573020258
NM_024757.5(EHMT1):c.3353G>A (p.Arg1118His)
NM_024757.5(EHMT1):c.3374+5G>C
NM_024757.5(EHMT1):c.3376G>A (p.Ala1126Thr)
NM_024757.5(EHMT1):c.3388C>G (p.Leu1130Val)
NM_024757.5(EHMT1):c.338A>G (p.Asp113Gly)
NM_024757.5(EHMT1):c.339C>G (p.Asp113Glu) rs1455743308
NM_024757.5(EHMT1):c.3405C>A (p.Asp1135Glu)
NM_024757.5(EHMT1):c.3406A>G (p.Met1136Val)
NM_024757.5(EHMT1):c.3418G>T (p.Val1140Leu) rs770731320
NM_024757.5(EHMT1):c.3434A>G (p.Asp1145Gly)
NM_024757.5(EHMT1):c.3440C>T (p.Pro1147Leu)
NM_024757.5(EHMT1):c.3449C>G (p.Thr1150Ser) rs2132793758
NM_024757.5(EHMT1):c.3461+3G>A
NM_024757.5(EHMT1):c.3462-5T>G rs1955068064
NM_024757.5(EHMT1):c.3462G>A (p.Glu1154=) rs2132809157
NM_024757.5(EHMT1):c.347A>G (p.Gln116Arg)
NM_024757.5(EHMT1):c.3484G>A (p.Asp1162Asn) rs2132809230
NM_024757.5(EHMT1):c.3493G>A (p.Ala1165Thr) rs2132809449
NM_024757.5(EHMT1):c.3498C>A (p.Asp1166Glu) rs374902198
NM_024757.5(EHMT1):c.3541-20_3541-19delinsTT
NM_024757.5(EHMT1):c.3541-6C>G rs1956449000
NM_024757.5(EHMT1):c.3544G>A (p.Gly1182Arg) rs2133151801
NM_024757.5(EHMT1):c.3544G>C (p.Gly1182Arg) rs2133151801
NM_024757.5(EHMT1):c.3562G>A (p.Asp1188Asn) rs1588947472
NM_024757.5(EHMT1):c.3569G>A (p.Arg1190Gln) rs886042261
NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val) rs2133152660
NM_024757.5(EHMT1):c.3606C>G (p.His1202Gln) rs771429616
NM_024757.5(EHMT1):c.3610G>A (p.Glu1204Lys)
NM_024757.5(EHMT1):c.3610G>C (p.Glu1204Gln)
NM_024757.5(EHMT1):c.3617A>G (p.Asn1206Ser) rs2133152969
NM_024757.5(EHMT1):c.3619C>A (p.Leu1207Met) rs764877266
NM_024757.5(EHMT1):c.364A>C (p.Ser122Arg)
NM_024757.5(EHMT1):c.365G>A (p.Ser122Asn)
NM_024757.5(EHMT1):c.3670A>G (p.Ile1224Val) rs892250040
NM_024757.5(EHMT1):c.367A>G (p.Asn123Asp)
NM_024757.5(EHMT1):c.3686C>G (p.Thr1229Ser)
NM_024757.5(EHMT1):c.368A>G (p.Asn123Ser)
NM_024757.5(EHMT1):c.36G>C (p.Arg12Ser)
NM_024757.5(EHMT1):c.36G>T (p.Arg12Ser)
NM_024757.5(EHMT1):c.3703G>C (p.Gly1235Arg)
NM_024757.5(EHMT1):c.3715G>A (p.Gly1239Arg) rs753648181
NM_024757.5(EHMT1):c.3743A>G (p.Asp1248Gly)
NM_024757.5(EHMT1):c.3762C>A (p.Phe1254Leu)
NM_024757.5(EHMT1):c.3770G>A (p.Arg1257His)
NM_024757.5(EHMT1):c.3779C>T (p.Ser1260Phe)
NM_024757.5(EHMT1):c.3790C>T (p.Arg1264Trp)
NM_024757.5(EHMT1):c.3791G>T (p.Arg1264Leu)
NM_024757.5(EHMT1):c.3797C>G (p.Ser1266Trp)
NM_024757.5(EHMT1):c.37G>A (p.Gly13Arg) rs781470751
NM_024757.5(EHMT1):c.3806_3809del (p.Ala1269fs)
NM_024757.5(EHMT1):c.3809_3835del (p.Leu1270_Ala1278del)
NM_024757.5(EHMT1):c.3833CCCAGGAGG[1] (p.1278AQE[1]) rs751283937
NM_024757.5(EHMT1):c.384T>G (p.Asn128Lys)
NM_024757.5(EHMT1):c.3880G>A (p.Ala1294Thr) rs745313387
NM_024757.5(EHMT1):c.3880_3881delinsTT (p.Ala1294Phe)
NM_024757.5(EHMT1):c.3887_*10dup (p.Ala1294_Ter1299=) rs1393445160
NM_024757.5(EHMT1):c.388C>T (p.Pro130Ser)
NM_024757.5(EHMT1):c.3890C>G (p.Pro1297Arg)
NM_024757.5(EHMT1):c.3890C>T (p.Pro1297Leu)
NM_024757.5(EHMT1):c.3892dup (p.Leu1298fs)
NM_024757.5(EHMT1):c.38G>T (p.Gly13Val) rs925532395
NM_024757.5(EHMT1):c.3G>A (p.Met1Ile)
NM_024757.5(EHMT1):c.401C>T (p.Ala134Val)
NM_024757.5(EHMT1):c.415A>C (p.Thr139Pro)
NM_024757.5(EHMT1):c.419C>G (p.Thr140Ser)
NM_024757.5(EHMT1):c.419C>T (p.Thr140Ile)
NM_024757.5(EHMT1):c.41A>C (p.Glu14Ala)
NM_024757.5(EHMT1):c.421A>G (p.Ser141Gly)
NM_024757.5(EHMT1):c.444_445inv (p.Gly149Ser)
NM_024757.5(EHMT1):c.461C>A (p.Thr154Asn) rs2135509210
NM_024757.5(EHMT1):c.467C>T (p.Pro156Leu) rs1409055029
NM_024757.5(EHMT1):c.470G>A (p.Gly157Glu) rs1554846686
NM_024757.5(EHMT1):c.478G>A (p.Gly160Ser)
NM_024757.5(EHMT1):c.497G>C (p.Ser166Thr)
NM_024757.5(EHMT1):c.523C>G (p.Pro175Ala)
NM_024757.5(EHMT1):c.526C>G (p.Pro176Ala) rs34704821
NM_024757.5(EHMT1):c.533C>G (p.Thr178Ser) rs777497639
NM_024757.5(EHMT1):c.538G>T (p.Gly180Trp) rs1588329836
NM_024757.5(EHMT1):c.541G>C (p.Glu181Gln) rs2135511251
NM_024757.5(EHMT1):c.548G>C (p.Ser183Thr) rs1292725669
NM_024757.5(EHMT1):c.54T>G (p.Asp18Glu)
NM_024757.5(EHMT1):c.556A>G (p.Thr186Ala)
NM_024757.5(EHMT1):c.563A>G (p.Asp188Gly)
NM_024757.5(EHMT1):c.580C>T (p.Pro194Ser)
NM_024757.5(EHMT1):c.581C>G (p.Pro194Arg) rs35570782
NM_024757.5(EHMT1):c.586G>T (p.Ala196Ser)
NM_024757.5(EHMT1):c.592G>T (p.Val198Phe) rs761554206
NM_024757.5(EHMT1):c.5C>T (p.Ala2Val)
NM_024757.5(EHMT1):c.619A>G (p.Met207Val)
NM_024757.5(EHMT1):c.622C>T (p.Pro208Ser)
NM_024757.5(EHMT1):c.623C>T (p.Pro208Leu)
NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) rs764569458
NM_024757.5(EHMT1):c.641T>G (p.Leu214Arg)
NM_024757.5(EHMT1):c.647C>T (p.Ala216Val) rs1273782554
NM_024757.5(EHMT1):c.66A>T (p.Lys22Asn)
NM_024757.5(EHMT1):c.676G>A (p.Glu226Lys) rs1554852591
NM_024757.5(EHMT1):c.678A>C (p.Glu226Asp) rs1946812433
NM_024757.5(EHMT1):c.682A>G (p.Arg228Gly)
NM_024757.5(EHMT1):c.689A>G (p.His230Arg) rs1946813486
NM_024757.5(EHMT1):c.696A>T (p.Glu232Asp) rs2135783334
NM_024757.5(EHMT1):c.708G>C (p.Glu236Asp)
NM_024757.5(EHMT1):c.714C>G (p.Asn238Lys)
NM_024757.5(EHMT1):c.737G>C (p.Arg246Pro) rs144871446
NM_024757.5(EHMT1):c.755C>A (p.Pro252His)
NM_024757.5(EHMT1):c.763T>A (p.Ser255Thr)
NM_024757.5(EHMT1):c.77T>C (p.Leu26Pro) rs2135389182
NM_024757.5(EHMT1):c.790C>G (p.Gln264Glu) rs1946822310
NM_024757.5(EHMT1):c.799A>C (p.Met267Leu) rs139268115
NM_024757.5(EHMT1):c.7G>A (p.Ala3Thr) rs1842768525
NM_024757.5(EHMT1):c.818A>G (p.Gln273Arg) rs2135785234
NM_024757.5(EHMT1):c.824-5T>A
NM_024757.5(EHMT1):c.824C>G (p.Ala275Gly) rs772558779
NM_024757.5(EHMT1):c.827G>A (p.Cys276Tyr) rs1415240278
NM_024757.5(EHMT1):c.827G>C (p.Cys276Ser) rs1415240278
NM_024757.5(EHMT1):c.839T>G (p.Val280Gly) rs1277198238
NM_024757.5(EHMT1):c.856T>A (p.Ser286Thr)
NM_024757.5(EHMT1):c.859C>T (p.Arg287Trp)
NM_024757.5(EHMT1):c.86-3C>T
NM_024757.5(EHMT1):c.872G>C (p.Arg291Pro)
NM_024757.5(EHMT1):c.877A>C (p.Met293Leu)
NM_024757.5(EHMT1):c.87G>C (p.Glu29Asp)
NM_024757.5(EHMT1):c.909G>C (p.Lys303Asn)
NM_024757.5(EHMT1):c.916G>A (p.Val306Ile) rs780215981
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176
NM_024757.5(EHMT1):c.922A>C (p.Lys308Gln)
NM_024757.5(EHMT1):c.948T>G (p.Phe316Leu) rs1564675635
NM_024757.5(EHMT1):c.94A>G (p.Met32Val) rs762798813
NM_024757.5(EHMT1):c.955A>G (p.Ile319Val)
NM_024757.5(EHMT1):c.95T>C (p.Met32Thr) rs1564627371
NM_024757.5(EHMT1):c.95_96insAGC (p.Met32delinsIleAla)
NM_024757.5(EHMT1):c.961C>G (p.His321Asp)
NM_024757.5(EHMT1):c.968C>G (p.Thr323Ser)
NM_024757.5(EHMT1):c.972G>A (p.Val324=) rs1368573421
NM_024757.5(EHMT1):c.974G>A (p.Gly325Asp)
NM_024757.5(EHMT1):c.982G>C (p.Gly328Arg) rs762417944
NM_024757.5(EHMT1):c.983G>A (p.Gly328Glu) rs1468659406
NM_024757.5(EHMT1):c.989A>G (p.Lys330Arg)
NM_024757.5(EHMT1):c.997G>A (p.Gly333Ser)

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