List of variants in gene combination EHMT1, LOC130003135 reported as uncertain significance for Kleefstra syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn)	rs1050977100
NM_024757.5(EHMT1):c.14A>G (p.Asp5Gly)
NM_024757.5(EHMT1):c.16G>A (p.Ala6Thr)
NM_024757.5(EHMT1):c.19G>A (p.Glu7Lys)
NM_024757.5(EHMT1):c.21+3G>T	rs2133371890
NM_024757.5(EHMT1):c.2T>G (p.Met1Arg)	rs1185800023
NM_024757.5(EHMT1):c.3G>A (p.Met1Ile)
NM_024757.5(EHMT1):c.5C>T (p.Ala2Val)
NM_024757.5(EHMT1):c.7G>A (p.Ala3Thr)	rs1842768525

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