ClinVar Miner

List of variants in gene TGFBR1 reported as benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*4578T>G rs1590 0.28501
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_004612.4(TGFBR1):c.*2800G>A rs334349 0.27616
NM_004612.4(TGFBR1):c.*2103_*2104insG rs36064078 0.25780
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.*3286G>C rs420549 0.16407
NM_004612.4(TGFBR1):c.*4489T>C rs7850895 0.07302
NM_004612.4(TGFBR1):c.*3225G>A rs3739798 0.02363
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.457G>A (p.Val153Ile) rs56014374 0.00115
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.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_004612.2:c.76_78delCGC
NM_004612.2:c.76_78dupCG
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.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=) rs201444476

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