ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 45 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser) rs2037753806
NM_001386298.1(CIC):c.4612C>T (p.Gln1538Ter) rs2038020420
NM_001386298.1(CIC):c.5903-1G>A
NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser) rs2038239333
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter) rs752780532

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