ClinVar Miner

List of variants reported as likely pathogenic for Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

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Total variants: 12
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HGVS dbSNP
NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs)
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) rs1572785471
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)
NM_001190274.2(FBXO11):c.1920+2T>A rs1572776344
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)
NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser)
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) rs1572764698
NM_001190274.2(FBXO11):c.2338+2T>C
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)
NM_025133.4(FBXO11):c.1893G>C (p.Lys631Asn) rs1572764737

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