ClinVar Miner

List of variants in gene EHMT1 reported as likely pathogenic

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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 9q34.3(chr9:140550908-140632178)x1
NC_000009.12:g.137743962_137743963dup
NM_024757.5(EHMT1):c.1249-2A>G rs1564697048
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024757.5(EHMT1):c.2608-1G>C
NM_024757.5(EHMT1):c.2712+1G>C rs1057518849
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3462-10C>G rs752178081
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.3626_3631dup (p.Pro1209_Val1210dup) rs1554908367
NM_024757.5(EHMT1):c.611G>A (p.Arg204His) rs786205601
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531

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