ClinVar Miner

List of variants in gene TBR1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006593.4(TBR1):c.1125G>A (p.Thr375=) rs199651195 0.00030
NM_006593.4(TBR1):c.1161T>C (p.Phe387=) rs181943543 0.00004
NM_006593.4(TBR1):c.1054C>T (p.Gln352Ter) rs1553510472
NM_006593.4(TBR1):c.1353G>A (p.Ala451=) rs759895872
NM_006593.4(TBR1):c.1419C>G (p.Ala473=) rs1235590342
NM_006593.4(TBR1):c.1803C>G (p.Ala601=) rs1397401258
NM_006593.4(TBR1):c.1932C>A (p.Asp644Glu)
NM_006593.4(TBR1):c.19del (p.Leu7fs)
NM_006593.4(TBR1):c.212C>G (p.Ser71Cys) rs1684126771
NM_006593.4(TBR1):c.571C>T (p.Gln191Ter) rs1553510186
NM_006593.4(TBR1):c.94C>A (p.Leu32Ile)

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