ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001020658.2(PUM1):c.1158+1_1158+2dup rs1553148974
NM_001099433.2(JAKMIP1):c.1432-2A>G rs1135401781
NM_001281775.3(ZMYND8):c.2629C>T (p.Gln877Ter) rs1135401783
NM_001370785.2(LRRC7):c.3630T>G (p.Tyr1210Ter) rs1135401780

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