ClinVar Miner

List of variants in gene TGFBR1 reported by Blueprint Genetics,

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Total variants: 14
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HGVS dbSNP
NM_004612.4(TGFBR1):c.1130+1G>A
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) rs201910738
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)
NM_004612.4(TGFBR1):c.400G>A (p.Val134Met) rs730880222
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) rs767785290
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys)
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535

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