ClinVar Miner

List of variants reported as not provided for Intellectual disability

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_001080517.3(SETD5):c.2212_2213del (p.Met738fs) rs2125289335
NM_001273.5(CHD4):c.4147+1G>T rs2136203532
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn) rs869320713
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln) rs1057519947

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