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: 46
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg) rs780870758 0.00001
NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs) rs1672291261
NM_001190274.2(FBXO11):c.1261G>A (p.Gly421Arg) rs2104808289
NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
NM_001190274.2(FBXO11):c.1504A>C (p.Thr502Pro) rs2104739162
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
NM_001190274.2(FBXO11):c.1517A>G (p.Tyr506Cys) rs2104739095
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr) rs1572785471
NM_001190274.2(FBXO11):c.1645G>A (p.Gly549Arg) rs2104731942
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg) rs1671446124
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
NM_001190274.2(FBXO11):c.1733C>G (p.Thr578Arg) rs2104716435
NM_001190274.2(FBXO11):c.1781A>G (p.His594Arg) rs2104716081
NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser) rs2104716065
NM_001190274.2(FBXO11):c.1830T>G (p.Asn610Lys) rs775765831
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup) rs977093129
NM_001190274.2(FBXO11):c.1920+2T>A rs1572776344
NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro) rs2104702176
NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser) rs2104702108
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg) rs1671184211
NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser) rs1670806923
NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp) rs2104663941
NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn) rs2104663816
NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe) rs1670805547
NM_001190274.2(FBXO11):c.2084-93_2084-1del
NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val) rs2104658407
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg) rs1572764698
NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter) rs2104657995
NM_001190274.2(FBXO11):c.2338+2T>C rs1670528197
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr) rs1670371887
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val) rs1670355281
NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
NM_001190274.2(FBXO11):c.37C>T (p.Arg13Ter) rs1233367010
NM_001190274.2(FBXO11):c.404A>G (p.Lys135Arg) rs2104860667
NM_001190274.2(FBXO11):c.412A>G (p.Arg138Gly) rs2104860646
NM_001190274.2(FBXO11):c.554G>A (p.Arg185His) rs2104856077
NM_001190274.2(FBXO11):c.606A>C (p.Glu202Asp) rs2104832921
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys) rs1672530798
NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter) rs757821091

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