ClinVar Miner

List of variants studied for Kleefstra syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.508del (p.Gln170fs) rs1945392174
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802

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