List of variants in gene TGFBR2 reported as likely pathogenic for Loeys-Dietz syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)	rs727504292	0.00001
NM_003242.6(TGFBR2):c.95-2A>G	rs779131465	0.00001
NM_003242.6(TGFBR2):c.1049T>A (p.Leu350Gln)
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg)	rs2125436184
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)	rs1575158079
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg)	rs2125436754
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly)	rs2125436754
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro)	rs2125439099
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	rs886039551
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser)	rs104893811
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro)	rs104893816
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	rs587782979
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	rs863224935
NM_003242.6(TGFBR2):c.1562G>A (p.Trp521Ter)
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser)	rs2125434732

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