ClinVar Miner

List of variants in gene combination FBXO11, MSH6 reported as pathogenic

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_47948073)_(48035379_?)del
NM_000179.2(MSH6):c.3557-?_(*93_?)del
NM_001190274.2(FBXO11):c.2339-2A>G
NM_001190274.2(FBXO11):c.2392AAC[1] (p.Asn799del) rs2104626104
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001190274.2(FBXO11):c.2520_2521del (p.Ser841fs) rs2104621655
NM_001190274.2(FBXO11):c.2568_2572del (p.Asn857fs) rs2104613365
NM_001190274.2(FBXO11):c.2570_2572del (p.Asn857del) rs2104613345
NM_001190274.2(FBXO11):c.2592_2593del (p.Ile864fs) rs2104613193
NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs) rs1230294673
NM_001190274.2(FBXO11):c.2685_2686del (p.Leu895_Ser896insTer) rs1572753822
NM_001190274.2(FBXO11):c.2700_2703del (p.Ala902fs) rs1670357007
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter) rs1553334874
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001190274.2(FBXO11):c.2732_2738del (p.Thr911fs)
NM_001190274.2(FBXO11):c.2736dup (p.Tyr913fs)
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer) rs1553334863
NM_001190274.2(FBXO11):c.2744_2745del (p.Ser915fs) rs1670354261
NM_001190274.2(FBXO11):c.2748_2749del (p.Pro917fs) rs2104610531
NM_001190274.2(FBXO11):c.2758G>T (p.Glu920Ter) rs1670353845

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