ClinVar Miner

List of variants in gene EHMT1 reported as likely pathogenic for Kleefstra syndrome 1

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_140605409)_(140605492_?)dup
NC_000009.12:g.(?_137743351)_(137744110_?)dup
NC_000009.12:g.(?_137790828)_(137790990_?)del
NC_000009.12:g.(?_137790828)_(137818158_?)del
NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs) rs1588481921
NM_024757.5(EHMT1):c.1170+2T>C
NM_024757.5(EHMT1):c.1180del (p.Glu394fs)
NM_024757.5(EHMT1):c.1249-2A>G
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter) rs1949206105
NM_024757.5(EHMT1):c.1370-1G>C
NM_024757.5(EHMT1):c.1919_1923dup (p.Ile642Ter)
NM_024757.5(EHMT1):c.2382+1G>A rs2136894487
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024757.5(EHMT1):c.2525G>A (p.Cys842Tyr)
NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr) rs1953188177
NM_024757.5(EHMT1):c.2618G>T (p.Gly873Val)
NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr)
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter) rs368087892
NM_024757.5(EHMT1):c.3259-1G>A rs1554897763
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3313T>C (p.Cys1105Arg)
NM_024757.5(EHMT1):c.3343T>G (p.Cys1115Gly) rs1954891050
NM_024757.5(EHMT1):c.3345_3361del (p.Cys1115_Gln1121delinsTer)
NM_024757.5(EHMT1):c.3461+1G>C
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) rs1956451830
NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del) rs1554908290
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.5(EHMT1):c.3610del (p.Glu1204fs)
NM_024757.5(EHMT1):c.3627_3633dup (p.Val1212fs) rs1956455734
NM_024757.5(EHMT1):c.50_85+60del rs2135388757
NM_024757.5(EHMT1):c.643-1G>A
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) rs1554852664
NM_024757.5(EHMT1):c.824-2del rs1234654104
NM_024757.5(EHMT1):c.870dup (p.Arg291fs) rs1948278092

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