ClinVar Miner

List of variants studied for Kleefstra syndrome 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001077482.2(NR1I3):c.740T>C (p.Phe247Ser) rs398122411
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714

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