ClinVar Miner

List of variants in gene EHMT1 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_024757.5(EHMT1):c.2712+1G>C rs1057518849
NM_024757.5(EHMT1):c.3462-10C>G rs752178081
NM_024757.5(EHMT1):c.3626_3631dup (p.Pro1209_Val1210dup) rs1554908367

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