List of variants in gene TBX5 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_181486.4(TBX5):c.1115_1116dup (p.Ala373fs)	rs1593836748
NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter)	rs863223778
NM_181486.4(TBX5):c.1140T>A (p.Tyr380Ter)
NM_181486.4(TBX5):c.1158del (p.Ser387fs)	rs1064795870
NM_181486.4(TBX5):c.188del (p.Leu63fs)	rs1555226584
NM_181486.4(TBX5):c.242+5G>A	rs1555226575
NM_181486.4(TBX5):c.250T>C (p.Phe84Leu)	rs1131691460
NM_181486.4(TBX5):c.376_402del (p.Lys126_Arg134del)	rs863223782
NM_181486.4(TBX5):c.676A>G (p.Lys226Glu)	rs1131691932
NM_181486.4(TBX5):c.697G>C (p.Ala233Pro)	rs1870766319
NM_181486.4(TBX5):c.755G>A (p.Ser252Asn)	rs863223776
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr)	rs863223776

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