ClinVar Miner

List of variants studied for Kleefstra syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (6):

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1502-2A>G	rs2136355927
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)	rs886041093
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	rs879255531
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)	rs137852714
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs)	rs1554496813

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