ClinVar Miner

List of variants in gene combination FBXO11, LOC100506235 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.149A>C (p.Gln50Pro) rs781277953 0.00370
NM_001190274.2(FBXO11):c.171T>G (p.Pro57=) rs1439315064 0.00004
NM_001190274.2(FBXO11):c.94C>G (p.Pro32Ala) rs915976035 0.00004
NM_001190274.2(FBXO11):c.-5G>A
NM_001190274.2(FBXO11):c.-6C>T
NM_001190274.2(FBXO11):c.105GCCCCAGCAGCAGCC[1] (p.37QQQPP[1]) rs747252806
NM_001190274.2(FBXO11):c.12C>A (p.Val4=) rs910667496
NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)
NM_001190274.2(FBXO11):c.149AGC[5] (p.Gln55_Gln56del) rs746953076
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001190274.2(FBXO11):c.149AGC[9] (p.Gln55_Gln56dup) rs746953076
NM_001190274.2(FBXO11):c.66A>G (p.Gln22=)
NM_001190274.2(FBXO11):c.96_107del (p.Pro33_Pro36del) rs770886918

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