ClinVar Miner

List of variants in gene TTC7A reported as benign for Multiple gastrointestinal atresias

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17069
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05377
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.03052
NM_020458.4(TTC7A):c.1641+17C>T rs78064634 0.01232
NM_020458.4(TTC7A):c.873G>C (p.Leu291=) rs113997845 0.00851
NM_020458.4(TTC7A):c.2152+20T>C rs13001154 0.00805
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00556
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00272
NM_020458.4(TTC7A):c.1617G>A (p.Ser539=) rs112085853 0.00189
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_020458.4(TTC7A):c.2061G>C (p.Glu687Asp) rs147410586 0.00169
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_020458.4(TTC7A):c.1204-9C>T rs574765911 0.00030
NM_020458.4(TTC7A):c.517+11G>A rs199559356 0.00027
NM_020458.4(TTC7A):c.2397G>A (p.Gln799=) rs139056071 0.00022
NM_020458.4(TTC7A):c.2454C>T (p.Gly818=) rs200783396 0.00021
NM_020458.4(TTC7A):c.1569-18C>T rs201116007 0.00010
NM_020458.4(TTC7A):c.666G>A (p.Thr222=) rs374954171 0.00010
NM_020458.4(TTC7A):c.2445G>A (p.Ala815=) rs538187043 0.00009
NM_020458.4(TTC7A):c.348+12G>A rs777847973 0.00005
NM_020458.4(TTC7A):c.1203+13A>G rs199621267 0.00001
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020458.4(TTC7A):c.1919+11G>C rs149412946
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.437G>A (p.Arg146Gln) rs61746139
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139

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