ClinVar Miner

List of variants in gene TGFBR1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4578T>G rs1590 0.28501
NM_004612.4(TGFBR1):c.*2800G>A rs334349 0.27616
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_004612.4(TGFBR1):c.1130+254G>A rs10733710 0.20312
NM_004612.4(TGFBR1):c.1256-183A>T rs334357 0.17536
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_004612.4(TGFBR1):c.*4489T>C rs7850895 0.07302
NM_004612.4(TGFBR1):c.1256-279A>G rs1888225 0.04624
NM_004612.4(TGFBR1):c.98-157A>G rs7041311 0.04503
NM_004612.4(TGFBR1):c.805+39A>G rs11568778 0.02404
NM_004612.4(TGFBR1):c.973+142T>C rs10988724 0.01747
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.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.574+18C>T rs370062838 0.00006
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409 0.00001
NM_004612.4(TGFBR1):c.*4804del rs561572489
NM_004612.4(TGFBR1):c.1386+90_1386+94del rs56020300
NM_004612.4(TGFBR1):c.1387-15del rs752215820
NM_004612.4(TGFBR1):c.1387-334_1387-332del rs200225601
NM_004612.4(TGFBR1):c.50_58del (p.Leu17_Ala20delinsPro) rs863223804
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.574+197_574+202del rs11466461
NM_004612.4(TGFBR1):c.575-9dup rs863223798

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