ClinVar Miner

List of variants in gene combination MCFD2, TTC7A reported as likely benign for Multiple gastrointestinal atresias

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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.12G>A (p.Lys4=) rs1274237789 0.00001
NM_020458.4(TTC7A):c.132C>T (p.Gly44=) rs1403661278 0.00001
NM_020458.4(TTC7A):c.184+7A>C rs573720504 0.00001
NM_020458.4(TTC7A):c.106C>T (p.Leu36=)
NM_020458.4(TTC7A):c.108G>C (p.Leu36=)
NM_020458.4(TTC7A):c.145C>A (p.Arg49=)
NM_020458.4(TTC7A):c.15C>T (p.Gly5=)
NM_020458.4(TTC7A):c.21C>T (p.His7=)
NM_020458.4(TTC7A):c.27C>T (p.Ser9=) rs1572670688
NM_020458.4(TTC7A):c.36G>A (p.Lys12=) rs1187105862
NM_020458.4(TTC7A):c.81C>T (p.Asp27=) rs2103887947
NM_020458.4(TTC7A):c.94C>T (p.Leu32=) rs144050892

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