ClinVar Miner

List of variants in gene FBXO11 reported as uncertain significance for intellectual disability

Included ClinVar conditions (612):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.233-4A>G rs771961928 0.00001
NM_001190274.2(FBXO11):c.1079C>G (p.Ala360Gly)
NM_001190274.2(FBXO11):c.1264A>G (p.Ile422Val) rs766752833
NM_001190274.2(FBXO11):c.1272G>C (p.Glu424Asp) rs1487329821
NM_001190274.2(FBXO11):c.1340G>A (p.Arg447Lys) rs2104807871
NM_001190274.2(FBXO11):c.1352T>C (p.Ile451Thr)
NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val) rs112661514
NM_001190274.2(FBXO11):c.1484G>A (p.Cys495Tyr)
NM_001190274.2(FBXO11):c.1607C>G (p.Pro536Arg)
NM_001190274.2(FBXO11):c.1643A>T (p.Gln548Leu)
NM_001190274.2(FBXO11):c.1702+6C>T
NM_001190274.2(FBXO11):c.172C>G (p.Pro58Ala) rs1678728572
NM_001190274.2(FBXO11):c.174GCC[6] (p.Pro66_Leu67insProProPro)
NM_001190274.2(FBXO11):c.1774G>T (p.Gly592Cys)
NM_001190274.2(FBXO11):c.1787G>A (p.Gly596Glu)
NM_001190274.2(FBXO11):c.1844A>G (p.Asn615Ser)
NM_001190274.2(FBXO11):c.188C>T (p.Pro63Leu)
NM_001190274.2(FBXO11):c.1921-7A>G
NM_001190274.2(FBXO11):c.1931A>G (p.Tyr644Cys)
NM_001190274.2(FBXO11):c.1981_1983del (p.His661del)
NM_001190274.2(FBXO11):c.2074T>G (p.Tyr692Asp) rs2104663816
NM_001190274.2(FBXO11):c.2161A>G (p.Thr721Ala)
NM_001190274.2(FBXO11):c.2227+3A>G
NM_001190274.2(FBXO11):c.245C>T (p.Pro82Leu)
NM_001190274.2(FBXO11):c.274C>G (p.Pro92Ala)
NM_001190274.2(FBXO11):c.376A>G (p.Thr126Ala) rs17036993
NM_001190274.2(FBXO11):c.422G>A (p.Gly141Glu) rs2104860557
NM_001190274.2(FBXO11):c.504C>G (p.Phe168Leu)
NM_001190274.2(FBXO11):c.514C>A (p.Leu172Met) rs777108933
NM_001190274.2(FBXO11):c.571A>G (p.Asn191Asp)
NM_001190274.2(FBXO11):c.626C>G (p.Pro209Arg) rs1672529787
NM_001190274.2(FBXO11):c.863T>C (p.Ile288Thr)
NM_001190274.2(FBXO11):c.963A>G (p.Ile321Met)

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