ClinVar Miner

List of variants in gene TGFBR1 reported as benign by Invitae

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_004612.4(TGFBR1):c.1387-14dup rs863223800 0.00145
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala) rs1319771049 0.00006
NM_004612.4(TGFBR1):c.1131-3del
NM_004612.4(TGFBR1):c.1131-3dup
NM_004612.4(TGFBR1):c.1255+22dup
NM_004612.4(TGFBR1):c.343+21_343+22del rs1321978114
NM_004612.4(TGFBR1):c.343+22dup
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798

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