ClinVar Miner

List of variants in gene MCFD2, TTC7A studied for Multiple gastrointestinal atresias

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr) rs117017326 0.00059
NM_020458.4(TTC7A):c.71G>C (p.Gly24Ala) rs751550092 0.00017
NM_020458.4(TTC7A):c.162A>G (p.Ala54=) rs776259833 0.00005
NM_020458.4(TTC7A):c.102G>C (p.Arg34=) rs1409686440 0.00003
NM_020458.4(TTC7A):c.163G>A (p.Ala55Thr) rs963602999 0.00002
NM_020458.4(TTC7A):c.46G>A (p.Glu16Lys) rs775389933 0.00002
NM_020458.4(TTC7A):c.59G>A (p.Cys20Tyr) rs762989436 0.00002
NM_020458.4(TTC7A):c.89C>T (p.Pro30Leu) rs750887765 0.00002
NM_020458.4(TTC7A):c.101G>A (p.Arg34Gln) rs1156510458 0.00001
NM_020458.4(TTC7A):c.124C>G (p.Pro42Ala) rs865919847 0.00001
NM_020458.4(TTC7A):c.12G>A (p.Lys4=) rs1274237789 0.00001
NM_020458.4(TTC7A):c.132C>T (p.Gly44=) rs1403661278 0.00001
NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly) rs557981380 0.00001
NM_020458.4(TTC7A):c.148G>C (p.Gly50Arg) rs1288910906 0.00001
NM_020458.4(TTC7A):c.184+7A>C rs573720504 0.00001
NM_020458.4(TTC7A):c.44G>C (p.Ser15Thr) rs550715352 0.00001
NM_020458.4(TTC7A):c.52G>C (p.Glu18Gln) rs1177931649 0.00001
NM_020458.4(TTC7A):c.61C>G (p.Arg21Gly) rs1315722693 0.00001
NM_020458.4(TTC7A):c.73C>T (p.His25Tyr) rs910842442 0.00001
NC_000002.11:g.(?_47132602)_(47177685_?)dup
NC_000002.11:g.(?_47132602)_(47206066_?)del
NC_000002.11:g.(?_47132602)_(47206066_?)dup
NC_000002.11:g.(?_47168661)_(47238594_?)del
NM_020458.4(TTC7A):c.106C>T (p.Leu36=)
NM_020458.4(TTC7A):c.108G>C (p.Leu36=)
NM_020458.4(TTC7A):c.113C>G (p.Thr38Arg) rs1179064463
NM_020458.4(TTC7A):c.113C>T (p.Thr38Met) rs1179064463
NM_020458.4(TTC7A):c.12G>T (p.Lys4Asn) rs1274237789
NM_020458.4(TTC7A):c.136G>C (p.Gly46Arg)
NM_020458.4(TTC7A):c.141C>A (p.Asn47Lys) rs1454748257
NM_020458.4(TTC7A):c.145C>A (p.Arg49=)
NM_020458.4(TTC7A):c.153C>G (p.Ser51Arg)
NM_020458.4(TTC7A):c.154C>A (p.Pro52Thr) rs906523542
NM_020458.4(TTC7A):c.154C>G (p.Pro52Ala) rs906523542
NM_020458.4(TTC7A):c.154C>T (p.Pro52Ser)
NM_020458.4(TTC7A):c.15C>T (p.Gly5=)
NM_020458.4(TTC7A):c.169A>G (p.Thr57Ala) rs1572671568
NM_020458.4(TTC7A):c.176del (p.Pro59fs)
NM_020458.4(TTC7A):c.180C>G (p.Asp60Glu)
NM_020458.4(TTC7A):c.21C>T (p.His7=)
NM_020458.4(TTC7A):c.27C>T (p.Ser9=) rs1572670688
NM_020458.4(TTC7A):c.29A>T (p.Tyr10Phe) rs1041638738
NM_020458.4(TTC7A):c.35A>G (p.Lys12Arg)
NM_020458.4(TTC7A):c.36G>A (p.Lys12=) rs1187105862
NM_020458.4(TTC7A):c.61C>T (p.Arg21Cys) rs1315722693
NM_020458.4(TTC7A):c.81C>T (p.Asp27=) rs2103887947
NM_020458.4(TTC7A):c.94C>G (p.Leu32Val) rs144050892
NM_020458.4(TTC7A):c.94C>T (p.Leu32=) rs144050892

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.