ClinVar Miner

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

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Total variants: 19
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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.518-4G>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=)

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