List of variants in gene combination LOC126806211, TTC7A reported as likely benign for Multiple gastrointestinal atresias

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020458.4(TTC7A):c.556C>T (p.Arg186Cys)	rs148347796	0.00170
NM_020458.4(TTC7A):c.592A>G (p.Thr198Ala)	rs139708012	0.00040
NM_020458.4(TTC7A):c.549C>T (p.Ile183=)	rs199800071	0.00037
NM_020458.4(TTC7A):c.552C>T (p.Ala184=)	rs780077700	0.00004
NM_020458.4(TTC7A):c.618C>T (p.Ile206=)	rs770250064	0.00003
NM_020458.4(TTC7A):c.518-10C>A	rs201534336	0.00001
NM_020458.4(TTC7A):c.518-5C>T	rs755470255	0.00001
NM_020458.4(TTC7A):c.518-6C>T	rs754270867	0.00001
NM_020458.4(TTC7A):c.576G>A (p.Arg192=)	rs1446257636	0.00001
NM_020458.4(TTC7A):c.627G>A (p.Val209=)	rs775710013	0.00001
NM_020458.4(TTC7A):c.518-20G>A
NM_020458.4(TTC7A):c.518-20G>C
NM_020458.4(TTC7A):c.518-4G>A	rs190250043
NM_020458.4(TTC7A):c.518-4G>T	rs190250043
NM_020458.4(TTC7A):c.558C>T (p.Arg186=)	rs1420819472
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)	rs147471840
NM_020458.4(TTC7A):c.639A>G (p.Glu213=)	rs2104232195
NM_020458.4(TTC7A):c.642G>A (p.Leu214=)
NM_020458.4(TTC7A):c.648+18C>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.