List of variants in gene TGFBR1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=)	rs878854714	0.00020
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)	rs111513627	0.00019
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)	rs201745016	0.00007
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)	rs998268148	0.00001
NM_004612.4(TGFBR1):c.345A>G (p.Val115=)	rs766347880	0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)	rs776680716	0.00001
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys)	rs1057519144	0.00001
NM_004612.4(TGFBR1):c.1025A>G (p.Lys342Arg)
NM_004612.4(TGFBR1):c.1040G>T (p.Cys347Phe)	rs113786548
NM_004612.4(TGFBR1):c.1387-4G>A	rs397517031
NM_004612.4(TGFBR1):c.163T>C (p.Phe55Leu)	rs1588576233
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile)	rs745576967
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)	rs147146713
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val)	rs1564161322
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)	rs1554695407
NM_004612.4(TGFBR1):c.805+5_805+6del	rs2118724763
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp)	rs2118780957
NM_004612.4(TGFBR1):c.98-4C>A	rs1554698879

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