ClinVar Miner

List of variants in gene FBXO11 studied for Neurodevelopmental disorder

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.1042-1G>C rs1572806589
NM_001190274.2(FBXO11):c.1260+1G>C rs1672276134
NM_001190274.2(FBXO11):c.1276A>T (p.Asn426Tyr) rs2104808169
NM_001190274.2(FBXO11):c.1459T>C (p.Tyr487His)
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val) rs1553338592
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer) rs1671197579
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg) rs1671196392
NM_001190274.2(FBXO11):c.2084-1G>A rs1670754178
NM_001190274.2(FBXO11):c.2084-6_2085dup rs1670753929
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.467A>G (p.Gln156Arg) rs1672806975
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs) rs1672803381
Single allele

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