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:
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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