ClinVar Miner

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

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_024757.4(EHMT1):c.3375-11_3375-10delCT rs112664025
NM_024757.4(EHMT1):c.3541-11_3541-10dupTC rs10667884
NM_024757.4(EHMT1):c.824-5_824-3delTTT rs34385417
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.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
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.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310
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.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
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.432C>T (p.Ala144=) rs139461232
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.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.642+38A>G rs72766927

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