ClinVar Miner

List of variants in gene combination FBXO11, LOC100506235 reported as uncertain significance for not provided

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001190274.2(FBXO11):c.145C>T (p.Pro49Ser) rs1031331068 0.00004
NM_001190274.2(FBXO11):c.94C>G (p.Pro32Ala) rs915976035 0.00004
NM_001190274.2(FBXO11):c.152A>C (p.Gln51Pro) rs907416149 0.00003
NM_001190274.2(FBXO11):c.170C>A (p.Pro57His) rs1475488188 0.00003
NM_001190274.2(FBXO11):c.162_170dup (p.Gln55_Pro57dup) rs1305123743 0.00002
NM_001190274.2(FBXO11):c.137C>T (p.Pro46Leu) rs1452420405 0.00001
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln) rs1257345739 0.00001
NM_001190274.2(FBXO11):c.162G>T (p.Gln54His) rs952069055 0.00001
NM_001190274.2(FBXO11):c.77A>C (p.Gln26Pro) rs1465335735 0.00001
NM_001190274.2(FBXO11):c.100C>G (p.Gln34Glu)
NM_001190274.2(FBXO11):c.101A>C (p.Gln34Pro)
NM_001190274.2(FBXO11):c.104C>T (p.Pro35Leu)
NM_001190274.2(FBXO11):c.104_112del (p.32PPQ[1]) rs777640905
NM_001190274.2(FBXO11):c.104_112dup (p.Gln37_Gln38insProProGln)
NM_001190274.2(FBXO11):c.106C>T (p.Pro36Ser)
NM_001190274.2(FBXO11):c.107_115dup (p.Gln38_Gln39insProGlnGln)
NM_001190274.2(FBXO11):c.107_148del (p.Pro36_Pro49del)
NM_001190274.2(FBXO11):c.119_154dup (p.Gln51_Gln52insProProGlnGlnGlnProProProProProGlnGln)
NM_001190274.2(FBXO11):c.11T>A (p.Val4Asp) rs1199675600
NM_001190274.2(FBXO11):c.120_146delinsTCCGCCGCCGCCGCAGCAGCAGCA (p.Gln42_Pro49delinsProProProGlnGlnGlnGln)
NM_001190274.2(FBXO11):c.122C>T (p.Pro41Leu)
NM_001190274.2(FBXO11):c.122_148del (p.Pro41_Pro49del)
NM_001190274.2(FBXO11):c.123_146dup (p.Gln52_Gln53insProProProProProGlnGlnGln)
NM_001190274.2(FBXO11):c.123_149del (p.Pro45_Gln53del) rs2104138667
NM_001190274.2(FBXO11):c.129_134dup (p.Pro45_Pro46insGlnPro)
NM_001190274.2(FBXO11):c.134_154dup (p.Gln51_Gln52insProProProProProGlnGln)
NM_001190274.2(FBXO11):c.135_140dup (p.Pro49_Gln50insProPro)
NM_001190274.2(FBXO11):c.137C>G (p.Pro46Arg) rs1452420405
NM_001190274.2(FBXO11):c.146_151dup (p.Gln50_Gln51insProGln)
NM_001190274.2(FBXO11):c.149AGC[6] (p.Gln56del) rs746953076
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001190274.2(FBXO11):c.149_196del (p.Gln50_Pro65del)
NM_001190274.2(FBXO11):c.14G>C (p.Arg5Pro)
NM_001190274.2(FBXO11):c.151_152insCGCCCC (p.Gln50_Gln51insProPro)
NM_001190274.2(FBXO11):c.160_161insCGCCCC (p.Gln53_Gln54insProPro)
NM_001190274.2(FBXO11):c.160_161insCTCCGCCGCCGCCGCCGCAGC (p.Gln53_Gln54insProProProProProProGln)
NM_001190274.2(FBXO11):c.164A>G (p.Gln55Arg)
NM_001190274.2(FBXO11):c.169_170insAGCCTCCGCCGCCGCCGCAGCAGCAGCAGCAGCAGCAGCAGC (p.50_56Q[8]P[5]Q[8]) rs746953076
NM_001190274.2(FBXO11):c.16G>A (p.Ala6Thr)
NM_001190274.2(FBXO11):c.20C>G (p.Ala7Gly)
NM_001190274.2(FBXO11):c.26G>A (p.Arg9Gln)
NM_001190274.2(FBXO11):c.31C>T (p.Pro11Ser)
NM_001190274.2(FBXO11):c.41T>C (p.Val14Ala)
NM_001190274.2(FBXO11):c.56C>T (p.Pro19Leu)
NM_001190274.2(FBXO11):c.5A>G (p.Asn2Ser)
NM_001190274.2(FBXO11):c.62A>C (p.Gln21Pro)
NM_001190274.2(FBXO11):c.66_74dup (p.Gln26_Pro27insGlnGlnGln)
NM_001190274.2(FBXO11):c.71_97dup (p.Gln24_Pro32dup) rs2104140648
NM_001190274.2(FBXO11):c.74A>T (p.Gln25Leu) rs2104141395
NM_001190274.2(FBXO11):c.77_91dup (p.Gln30_Pro31insGlnProProGlnGln)
NM_001190274.2(FBXO11):c.79_80insAGCCCCCGCAGCAGC (p.Gln26_Pro27insGlnProProGlnGln)
NM_001190274.2(FBXO11):c.80_88del (p.Pro27_Gln29del)
NM_001190274.2(FBXO11):c.86A>C (p.Gln29Pro)
NM_001190274.2(FBXO11):c.86_97dup (p.25QQPP[3]) rs1348767844
NM_001190274.2(FBXO11):c.8C>T (p.Ser3Phe) rs2104142427
NM_001190274.2(FBXO11):c.92C>A (p.Pro31Gln)
NM_001190274.2(FBXO11):c.92C>T (p.Pro31Leu) rs1678749303
NM_001190274.2(FBXO11):c.97C>T (p.Pro33Ser)
NM_001190274.2(FBXO11):c.99_107del (p.32PPQ[1])

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