ClinVar Miner

List of variants in gene EHMT1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
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.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1345_1348AGAA[1] (p.Lys450fs) rs886042181
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) rs794727979
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.1501+13G>T rs3125794
NM_024757.5(EHMT1):c.1648-20C>T rs12341990
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373
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.1869C>T (p.Asn623=) rs7868455
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.2039C>T (p.Ser680Leu) rs147523309
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099
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.2356G>C (p.Val786Leu) rs398124405
NM_024757.5(EHMT1):c.2405G>A (p.Cys802Tyr) rs763767150
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870
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.2691T>G (p.Ser897=) rs794727214
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310
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.3000C>T (p.Pro1000=) rs35943616
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.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137
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.3180+10G>T rs113676865
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.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
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.3668G>A (p.Arg1223Gln) rs777746839
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
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.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.43C>T (p.Pro15Ser) rs727503916
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
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.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988
NM_024757.5(EHMT1):c.642+38A>G rs72766927
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024757.5(EHMT1):c.86-5G>A rs371370370
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176

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