List of variants in gene TGFBR1 reported as likely pathogenic for Loeys-Dietz syndrome

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	rs760079636	0.00001
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met)
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	rs1554701914
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn)	rs2118827924
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)	rs1827899415
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)	rs730880223
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser)
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)	rs1588598651
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	rs111426349
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu)
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)	rs1827276619
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)	rs863223807
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)	rs1564161322
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser)	rs727503470
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg)	rs727503470
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)	rs1564161544
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp)	rs1588585506
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	rs886038919
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys)	rs1588585570
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)	rs863223819
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro)	rs1827646767
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg)	rs1827647083

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