ClinVar Miner

List of variants in gene TGFBR1 reported as likely benign by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
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.810T>C (p.Asn270=) rs147388628 0.00024
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) rs369226180 0.00004
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110 0.00003
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459 0.00003
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890 0.00003
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=) rs753301297 0.00002
NM_004612.4(TGFBR1):c.343+3A>G rs374717754 0.00002
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=) rs753147276 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) rs761512764 0.00001
NM_004612.4(TGFBR1):c.1131-10T>A rs1390613164 0.00001
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=) rs895357571 0.00001
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.1256-8T>C rs1187207740 0.00001
NM_004612.4(TGFBR1):c.1350A>G (p.Leu450=) rs897701457 0.00001
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200 0.00001
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=) rs1315925147 0.00001
NM_004612.4(TGFBR1):c.583T>C (p.Leu195=) rs1827483486 0.00001
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) rs201497553 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=) rs201943631 0.00001
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419 0.00001
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409 0.00001
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286 0.00001
NM_004612.4(TGFBR1):c.1107A>G (p.Pro369=) rs1827742534
NM_004612.4(TGFBR1):c.1134C>T (p.Tyr378=) rs1827799271
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=) rs1407167849
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=) rs201163170
NM_004612.4(TGFBR1):c.1317A>G (p.Glu439=)
NM_004612.4(TGFBR1):c.1387-14A>T rs201772204
NM_004612.4(TGFBR1):c.1389C>T (p.Ala463=) rs1266698972
NM_004612.4(TGFBR1):c.1428T>C (p.Tyr476=) rs1827899944
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=) rs111818778
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=)
NM_004612.4(TGFBR1):c.1479G>C (p.Ser493=)
NM_004612.4(TGFBR1):c.1512A>G (p.Ter504=) rs1827906070
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)
NM_004612.4(TGFBR1):c.225T>A (p.Ile75=) rs200543076
NM_004612.4(TGFBR1):c.276T>C (p.Thr92=) rs1383627671
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=) rs747332492
NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=) rs550395617
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=) rs773845018
NM_004612.4(TGFBR1):c.453C>T (p.Arg151=)
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
NM_004612.4(TGFBR1):c.538T>C (p.Leu180=) rs1827280418
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.575-5T>G rs1025639851
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=) rs1326484806
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=) rs1321254948
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) rs202156059
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.735G>A (p.Glu245=) rs1588585506
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=) rs764165477
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.930G>T (p.Ala310=)
NM_004612.4(TGFBR1):c.951C>T (p.His317=) rs2118780749

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