ClinVar Miner

List of variants in gene TBX1 reported as benign for Cardiovascular phenotype

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003

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