ClinVar Miner

List of variants in gene SDCCAG8 reported as pathogenic for Bardet-Biedl syndrome 16

Included ClinVar conditions (2):
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter) rs1286714661 0.00001
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter) rs797045947 0.00001
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) rs267607031 0.00001
NC_000001.11:g.(?_243415682)_(243415849_?)del
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) rs770084716
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter) rs964673995
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs) rs778900414
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) rs587777847
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs) rs1390963789
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) rs587777846
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) rs2080721288
NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter) rs756518004
NM_006642.5(SDCCAG8):c.221-2A>G rs797045946
NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs) rs2149263988
NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter) rs201658593
NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) rs768207230
NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) rs1558264626
NM_006642.5(SDCCAG8):c.741-152G>A rs2072310236
NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter) rs149038104
NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs) rs1033766338

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