List of variants in gene TTC8 reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.265+1G>A	rs139234943	0.00001
NM_144596.4(TTC8):c.114+2T>C	rs1273244823
NM_144596.4(TTC8):c.1387del (p.His463fs)	rs2141044380
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)	rs376035653
NM_144596.4(TTC8):c.579+5G>A	rs2140977987
NM_144596.4(TTC8):c.710+1G>A	rs2140999630
NM_144596.4(TTC8):c.799-1G>T
NM_144596.4(TTC8):c.799-2A>G	rs771218088
NM_144596.4(TTC8):c.910-1G>A	rs2141033061

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