List of variants in gene TGFB2 reported as likely pathogenic by Blueprint Genetics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_003238.6(TGFB2):c.1086+1G>A	rs1571904338
NM_003238.6(TGFB2):c.294_297dup (p.Ala100fs)	rs1571821161
NM_003238.6(TGFB2):c.346+1G>C	rs1553292145
NM_003238.6(TGFB2):c.370dup (p.Arg124fs)	rs869025533
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter)	rs869025531
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter)	rs730880221
NM_003238.6(TGFB2):c.821dup (p.Asn274fs)	rs863223796

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