ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)
NM_024757.5(EHMT1):c.1249-2A>G rs1564697048
NM_024757.5(EHMT1):c.13_21+153del rs1564509503
NM_024757.5(EHMT1):c.2516G>T (p.Gly839Val) rs1554888939
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
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.673C>T (p.Arg225Ter) rs879255531

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