ClinVar Miner

List of variants studied for Kleefstra syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_024757.5(EHMT1):c.1501+1del rs2136274853
NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs) rs2137714332
NM_024757.5(EHMT1):c.3345_3361del (p.Cys1115_Gln1121delinsTer)
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.575_581del (p.Pro192fs) rs2135511963
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.824C>G (p.Ala275Gly) rs772558779

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