ClinVar Miner

List of variants in gene TBXAS1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001061.7(TBXAS1):c.992T>C (p.Ile331Thr) rs6140 0.00014
NM_001061.7(TBXAS1):c.364G>A (p.Asp122Asn) rs368719678 0.00010
NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro) rs140005285 0.00009
NM_001061.7(TBXAS1):c.193G>A (p.Glu65Lys) rs775012519 0.00001
NM_001061.7(TBXAS1):c.224G>A (p.Gly75Glu) rs768124977 0.00001
NM_001061.7(TBXAS1):c.179G>T (p.Arg60Leu) rs6138
NM_001061.7(TBXAS1):c.924G>A (p.Gly308=) rs1313888915

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