ClinVar Miner

List of variants studied for Kleefstra syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1597del (p.Thr533fs) rs1949929359
NM_024757.5(EHMT1):c.2959A>G (p.Ser987Gly) rs751339540
NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del) rs1588119681

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