List of variants in gene TTC8 reported as benign for Bardet-Biedl syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.1432-12T>C	rs79747892	0.03653
NM_144596.4(TTC8):c.625-5C>T	rs137853922	0.00807
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	rs114557412	0.00354
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)	rs114064158	0.00319
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)	rs150880478	0.00272
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)	rs142938748	0.00227
NM_144596.4(TTC8):c.330-15T>A	rs187484893	0.00059
NM_144596.4(TTC8):c.669G>A (p.Lys223=)	rs141304350	0.00026
NM_144596.4(TTC8):c.909+18T>C	rs111707320	0.00024
NM_144596.4(TTC8):c.145-7G>A	rs368220069	0.00004
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)	rs142073418

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