ClinVar Miner

List of variants reported as pathogenic for Kleefstra syndrome 1 by GeneReviews

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.1529_1532AGAC[1] (p.Asp512fs) rs137852716
NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter) rs137852717
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.2028dup (p.Pro677fs) rs1554879411
NM_024757.5(EHMT1):c.2193-1G>C rs137852720
NM_024757.5(EHMT1):c.2861_2862GT[1] (p.Val955fs) rs137852721
NM_024757.5(EHMT1):c.2868-1G>A rs137852722
NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.3180+1G>T rs137852724
NM_024757.5(EHMT1):c.3181-80_3233del rs1554896943
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714

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