ClinVar Miner

List of variants studied for Kleefstra syndrome 1 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg)
NM_024757.5(EHMT1):c.2976del (p.Ser992fs)
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del)
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.5(EHMT1):c.824-2A>T

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