ClinVar Miner

List of variants in gene AKT3, SDCCAG8 studied for Senior-Loken syndrome 7; Bardet-Biedl syndrome 16

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211 0.00038
NM_006642.5(SDCCAG8):c.2112+17G>A rs754713552 0.00029
NM_006642.5(SDCCAG8):c.1986-6C>T rs373079768 0.00004
NM_006642.5(SDCCAG8):c.1986-3C>T rs757455834 0.00001
NM_006642.5(SDCCAG8):c.2004G>A (p.Lys668=) rs754838222 0.00001
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu) rs1242245359 0.00001
NM_006642.5(SDCCAG8):c.2031G>A (p.Leu677=) rs201112344 0.00001
NM_006642.5(SDCCAG8):c.2055C>T (p.Asn685=) rs748909525 0.00001
NM_006642.5(SDCCAG8):c.2058G>A (p.Gln686=) rs952300030 0.00001
NM_006642.5(SDCCAG8):c.2085G>T (p.Ser695=) rs1239787306 0.00001
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) rs778488043 0.00001
NC_000001.10:g.(?_243419466)_(243663097_?)del
NC_000001.10:g.(?_243589709)_(243736370_?)del
NC_000001.10:g.(?_243652316)_(243652442_?)dup
NM_006642.5(SDCCAG8):c.*14G>C
NM_006642.5(SDCCAG8):c.1986-17G>C rs760731605
NM_006642.5(SDCCAG8):c.1986-4C>T rs1665718706
NM_006642.5(SDCCAG8):c.1986-6C>G
NM_006642.5(SDCCAG8):c.1987C>T (p.Leu663=) rs751286389
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.2013G>A (p.Gln671=) rs1665723637
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2028G>A (p.Gln676=)
NM_006642.5(SDCCAG8):c.2034G>C (p.Val678=)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2061T>C (p.Leu687=) rs2148267101
NM_006642.5(SDCCAG8):c.2070G>A (p.Glu690=)
NM_006642.5(SDCCAG8):c.2072G>A (p.Arg691Lys)
NM_006642.5(SDCCAG8):c.2073G>A (p.Arg691=)
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
NM_006642.5(SDCCAG8):c.2081T>C (p.Leu694Pro)
NM_006642.5(SDCCAG8):c.2085G>A (p.Ser695=)
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
NM_006642.5(SDCCAG8):c.2098C>A (p.Arg700=) rs369591883
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln) rs2148267381
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
NM_006642.5(SDCCAG8):c.2111A>G (p.Gln704Arg)
NM_006642.5(SDCCAG8):c.2112+11G>C
NM_006642.5(SDCCAG8):c.2112+20G>A
NM_006642.5(SDCCAG8):c.2112+2T>C
NM_006642.5(SDCCAG8):c.2112+8G>A rs2148267459
NM_006642.5(SDCCAG8):c.2113-11_2113-8dup
NM_006642.5(SDCCAG8):c.2113-1G>T
NM_006642.5(SDCCAG8):c.2113-20C>T
NM_006642.5(SDCCAG8):c.2113-5del
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile) rs1669058410
NM_006642.5(SDCCAG8):c.2133T>G (p.Ser711=)
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713_Ter714insCys) rs1268199421

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