ClinVar Miner

List of variants in gene TBX1 reported as benign by Athena Diagnostics Inc

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
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.324G>A (p.Ala108=) rs72646953 0.02309
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718

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