List of variants in gene FBXO11 reported as pathogenic for syndromic intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001190274.2(FBXO11):c.1543_1557del (p.Phe515_Lys519del)	rs2104738808
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val)	rs1553338592
NM_001190274.2(FBXO11):c.1646GAG[1] (p.Gly550del)
NM_001190274.2(FBXO11):c.1696del (p.Ile566fs)	rs2104731734
NM_001190274.2(FBXO11):c.1758dup (p.Asn587Ter)
NM_001190274.2(FBXO11):c.1797+1G>A	rs2104716005
NM_001190274.2(FBXO11):c.1798-1G>A	rs2104703623
NM_001190274.2(FBXO11):c.2138G>A (p.Trp713Ter)
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)	rs1572764737
NM_001190274.2(FBXO11):c.2147_2150del (p.Thr716fs)
NM_001190274.2(FBXO11):c.2338+1G>A	rs2104632978
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs)	rs1672866585
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser)	rs1553342109
NM_001190274.2(FBXO11):c.442+1dup	rs1553342101
NM_001190274.2(FBXO11):c.500TCT[1] (p.Phe168del)	rs2104856413
NM_001190274.2(FBXO11):c.552del (p.Lys184fs)	rs2104856110
NM_001190274.2(FBXO11):c.588-2A>G	rs2104833077
NM_001190274.2(FBXO11):c.668del (p.Pro223fs)	rs2104832291
NM_001190274.2(FBXO11):c.802-1G>A	rs1672424005

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