List of variants in gene TTC7A reported as likely pathogenic by Invitae

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_020458.4(TTC7A):c.2018-1G>C	rs948534045	0.00002
NM_020458.4(TTC7A):c.1287+1del	rs2104457522
NM_020458.4(TTC7A):c.1510+2T>C
NM_020458.4(TTC7A):c.1641+1G>A
NM_020458.4(TTC7A):c.1919+1G>C	rs751311194
NM_020458.4(TTC7A):c.2368_2369insCGCC (p.Ser790fs)	rs2103674254
NM_020458.4(TTC7A):c.2384dup (p.Ser796fs)	rs1684975294
NM_020458.4(TTC7A):c.517+1G>C	rs2104019844
NM_020458.4(TTC7A):c.764+1G>T	rs756396993

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