ClinVar Miner

List of variants studied for Kleefstra syndrome by Laboratory of Medical Genetics, University of Torino

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.3000del (p.Asp1001fs) rs1954627505
NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser)
NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser)
NM_024757.5(EHMT1):c.508del (p.Gln170fs) rs1945392174
NM_170606.3(KMT2C):c.5937del (p.Lys1980fs)

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