ClinVar Miner

List of variants in gene combination LOC126806211, TTC7A reported as uncertain significance for Multiple gastrointestinal atresias

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys) rs544316606 0.00006
NM_020458.4(TTC7A):c.635A>C (p.Gln212Pro) rs145134902 0.00005
NM_020458.4(TTC7A):c.620C>T (p.Ala207Val) rs778981167 0.00004
NM_020458.4(TTC7A):c.518G>A (p.Gly173Asp) rs1283566399 0.00001
NM_020458.4(TTC7A):c.569C>T (p.Thr190Ile) rs761142818 0.00001
NM_020458.4(TTC7A):c.607G>A (p.Ala203Thr) rs767203972 0.00001
NM_020458.4(TTC7A):c.624G>T (p.Gln208His) rs748288040 0.00001
NM_020458.4(TTC7A):c.530A>G (p.Glu177Gly) rs1673729373
NM_020458.4(TTC7A):c.532C>T (p.Arg178Cys)
NM_020458.4(TTC7A):c.533G>T (p.Arg178Leu)
NM_020458.4(TTC7A):c.535C>G (p.Leu179Val)
NM_020458.4(TTC7A):c.550G>A (p.Ala184Thr)
NM_020458.4(TTC7A):c.551C>T (p.Ala184Val)
NM_020458.4(TTC7A):c.578A>T (p.Glu193Val) rs1673735795
NM_020458.4(TTC7A):c.584A>G (p.Glu195Gly)
NM_020458.4(TTC7A):c.591C>G (p.Ile197Met) rs1673737073
NM_020458.4(TTC7A):c.592A>C (p.Thr198Pro) rs139708012
NM_020458.4(TTC7A):c.607G>T (p.Ala203Ser) rs767203972
NM_020458.4(TTC7A):c.635A>G (p.Gln212Arg)

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