List of variants in gene TGFBR1 reported as pathogenic by OMIM

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	rs113605875	0.00001
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val)	rs121918713	0.00001
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly)	rs121918711
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	rs111426349
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro)	rs113605875
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)	rs121918712
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	rs111854391
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg)	rs121918710

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