List of variants in gene TGFBR2 reported as likely pathogenic by Ambry 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His)	rs751948498	0.00001
NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg)	rs1553630221
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	rs869025537
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	rs863223845
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro)	rs2125437095
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu)	rs863223847
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	rs587782979
NM_003242.6(TGFBR2):c.1524+2T>C
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr)	rs2125455285
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)	rs727503476
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile)
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)	rs727503477
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His)	rs1553630174

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