List of variants in gene TBX6 reported as pathogenic for bone development disease

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)	rs202193096	0.00010
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter)	rs201620629	0.00001
NM_004608.3(TBX6):c.[-48-240A>G;-49+34G>T;1227G>A]
NM_004608.4(TBX6):c.1018_1019del (p.Leu340fs)
NM_004608.4(TBX6):c.1143dup (p.Tyr382fs)	rs2151031013
NM_004608.4(TBX6):c.1148C>A (p.Ser383Ter)	rs369015359
NM_004608.4(TBX6):c.1169dup (p.His391fs)	rs879253776
NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs)	rs879253857
NM_004608.4(TBX6):c.1250dup (p.Leu419fs)	rs786204039
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)	rs587777113
NM_004608.4(TBX6):c.221dup (p.Thr75fs)	rs1567342899
NM_004608.4(TBX6):c.266dup (p.Val91fs)	rs786204040
NM_004608.4(TBX6):c.704dup (p.Met236fs)	rs758051786

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