ClinVar Miner

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

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Total variants: 10
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NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078
NM_004612.4(TGFBR1):c.*2800G>A rs334349
NM_004612.4(TGFBR1):c.*3225G>A rs3739798
NM_004612.4(TGFBR1):c.*3286G>C rs420549
NM_004612.4(TGFBR1):c.*4489T>C rs7850895
NM_004612.4(TGFBR1):c.*4578T>G rs1590
NM_004612.4(TGFBR1):c.*69A>G rs868
NM_004612.4(TGFBR1):c.*884A>G rs334348
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.52_54GCG[6] (p.Ala24_Ala26del) rs11466445

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