List of variants in gene TBX4 reported as likely pathogenic for coxopodopatellar syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	rs200429513	0.00002
NM_001321120.2(TBX4):c.1021+1G>A	rs1428934331
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	rs754897911
NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile)	rs868469301
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs)	rs1555882291
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter)	rs2060654742

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