ClinVar Miner

List of variants studied for Kleefstra syndrome by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (6):

Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2
Kleefstra syndrome
Kleefstra syndrome 1
Kleefstra syndrome 1; Autism spectrum disorder
Kleefstra syndrome 2
Kleefstra syndrome due to a point mutation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg)	rs545055517
NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)
NM_170606.3(KMT2C):c.7067C>G (p.Pro2356Arg)
NM_170606.3(KMT2C):c.9262+1G>A

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