List of variants in gene TGFB2 reported as likely pathogenic by Invitae

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_003238.6(TGFB2):c.547C>T (p.Arg183Cys)	rs1436552875	0.00001
NC_000001.10:g.(?_218578501)_(218610848_?)del
NC_000001.11:g.(?_218405159)_(218405342_?)dup
NC_000001.11:g.(?_218405159)_(218444629_?)del
NC_000001.11:g.(?_218435960)_(218437506_?)del
NC_000001.11:g.(?_218441194)_(218444629_?)del
NM_003238.6(TGFB2):c.1049G>A (p.Cys350Tyr)	rs1558264109
NM_003238.6(TGFB2):c.346+1G>A	rs1553292145
NM_003238.6(TGFB2):c.346+1G>T	rs1553292145
NM_003238.6(TGFB2):c.755-5_755-2delinsG	rs1553303161
NM_003238.6(TGFB2):c.921_932+4del
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.933-2A>C

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