List of variants in gene SDCCAG8 studied for Bardet-Biedl syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NM_006642.5(SDCCAG8):c.1356+1G>C	rs2147782314
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)	rs397515335
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)	rs140413256
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)	rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)

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