ClinVar Miner

List of variants in gene TTC7A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020458.4(TTC7A):c.1641+3G>C rs370452371 0.00011
NM_020458.4(TTC7A):c.208G>A (p.Ala70Thr) rs367596523 0.00004
NM_020458.4(TTC7A):c.497C>T (p.Ser166Leu) rs752931401 0.00002
NM_020458.4(TTC7A):c.668C>T (p.Ser223Leu) rs267599393 0.00002
NM_020458.4(TTC7A):c.1297G>T (p.Ala433Ser)
NM_020458.4(TTC7A):c.2051G>A (p.Arg684Gln)
NM_020458.4(TTC7A):c.2577A>C (p.Ter859Cys) rs1685001234
NM_020458.4(TTC7A):c.899A>G (p.Tyr300Cys) rs146719089

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