ClinVar Miner

List of variants in gene TBX5 reported as pathogenic by OMIM

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys) rs104894383 0.00003
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NC_000012.11:g.114795705_114844082dup
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr) rs104894384
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) rs104894381
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.416del (p.Pro139fs) rs1593880204
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788

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