List of variants in gene TBX3 reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_005996.4(TBX3):c.1070_1080del (p.Ala357fs)	rs1237767989
NM_005996.4(TBX3):c.1287_1294dup (p.Glu432fs)
NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter)	rs1060505020
NM_005996.4(TBX3):c.1587dup (p.Ser530fs)
NM_005996.4(TBX3):c.1920_1921dup (p.Pro641fs)	rs1565858163
NM_005996.4(TBX3):c.227del (p.Ile76fs)	rs1592851924
NM_005996.4(TBX3):c.438dup (p.Ala147fs)
NM_005996.4(TBX3):c.657+1G>C	rs1592851007
NM_005996.4(TBX3):c.704dup (p.Arg236fs)
NM_005996.4(TBX3):c.817A>T (p.Lys273Ter)	rs104894376
NM_005996.4(TBX3):c.868C>T (p.Arg290Ter)
NM_005996.4(TBX3):c.88dup (p.Met30fs)	rs1592852070
NM_005996.4(TBX3):c.991C>T (p.Gln331Ter)	rs397514484

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