List of variants in gene TTC8 reported as likely pathogenic for perceptual disorders

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_144596.4(TTC8):c.489G>A (p.Thr163=)	rs119103286	0.00004
NM_144596.4(TTC8):c.915del (p.Met305fs)	rs1431207606	0.00001
NM_144596.4(TTC8):c.1131_1135delinsC (p.Met378fs)
NM_144596.4(TTC8):c.1132_1133del (p.Met378fs)
NM_144596.4(TTC8):c.115-2A>G	rs587777809
NM_144596.4(TTC8):c.1224+1G>C
NM_144596.4(TTC8):c.1309dup (p.Leu437fs)
NM_144596.4(TTC8):c.1348-1G>A
NM_144596.4(TTC8):c.201_204del (p.Ile67fs)
NM_144596.4(TTC8):c.214G>T (p.Glu72Ter)
NM_144596.4(TTC8):c.265+1_265+2del	rs1595939517
NM_144596.4(TTC8):c.265+1del
NM_144596.4(TTC8):c.293del (p.Gly98fs)	rs1271312946
NM_144596.4(TTC8):c.340C>T (p.Gln114Ter)
NM_144596.4(TTC8):c.456dup (p.Ser153fs)
NM_144596.4(TTC8):c.502dup (p.Thr168fs)
NM_144596.4(TTC8):c.532_535del (p.Ser178fs)
NM_144596.4(TTC8):c.555T>G (p.Tyr185Ter)
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)	rs376035653
NM_144596.4(TTC8):c.580-2A>G
NM_144596.4(TTC8):c.600dup (p.His201fs)
NM_144596.4(TTC8):c.624+1_624+2del
NM_144596.4(TTC8):c.625-1G>T
NM_144596.4(TTC8):c.638dup (p.Ala214fs)
NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)
NM_144596.4(TTC8):c.681G>A (p.Trp227Ter)
NM_144596.4(TTC8):c.711-2A>G
NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_144596.4(TTC8):c.798+1G>A
NM_144596.4(TTC8):c.799-2A>G	rs771218088
NM_144596.4(TTC8):c.823_839dup (p.Leu280_Phe281insTer)
NM_144596.4(TTC8):c.851del (p.Gly284fs)
NM_144596.4(TTC8):c.936del (p.Glu313fs)
NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)
NM_144596.4(TTC8):c.94G>T (p.Glu32Ter)

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