ClinVar Miner

List of variants in gene TGFBR2 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.454+267T>C rs2029314 0.90229
NM_003242.6(TGFBR2):c.264-289G>A rs6790706 0.89885
NM_003242.6(TGFBR2):c.95-1556G>A rs9867701 0.69361
NM_003242.6(TGFBR2):c.1397-240G>A rs9843942 0.43220
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_003242.6(TGFBR2):c.95-1332C>T rs17838698 0.30717
NM_003242.6(TGFBR2):c.95-3205C>G rs34771216 0.28245
NM_003242.6(TGFBR2):c.95-3038A>G rs56277861 0.28227
NM_003242.6(TGFBR2):c.95-3292T>C rs13093591 0.28184
NM_003242.6(TGFBR2):c.95-3262G>A rs67771022 0.26538
NM_003242.6(TGFBR2):c.455-4T>A rs11466512 0.25954
NM_003242.6(TGFBR2):c.1396+239C>T rs11466521 0.20744
NM_003242.6(TGFBR2):c.455-303A>C rs11466511 0.20380
NM_003242.6(TGFBR2):c.1524+236C>T rs2276768 0.18317
NM_003242.6(TGFBR2):c.*747C>G rs11466531 0.10463
NM_003242.6(TGFBR2):c.1525-212G>C rs9831664 0.06310
NM_003242.6(TGFBR2):c.*2085T>A rs11466537 0.04867
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048 0.03013
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_003242.6(TGFBR2):c.*1833A>C rs1803446 0.02445
NM_003242.6(TGFBR2):c.1524+230C>G rs9819937 0.02439
NM_003242.6(TGFBR2):c.1397-140A>C rs11466525 0.01826
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530 0.00230
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055 0.00001
GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1
NM_003242.6(TGFBR2):c.*2065C>T rs11466536
NM_003242.6(TGFBR2):c.*2248dup rs34914516
NM_003242.6(TGFBR2):c.*312AT[10] rs4016180
NM_003242.6(TGFBR2):c.*312AT[8] rs4016180
NM_003242.6(TGFBR2):c.263+220T>C rs1155706
NM_003242.6(TGFBR2):c.263+240T>C rs1155707
NM_003242.6(TGFBR2):c.264-193del rs11466494
NM_003242.6(TGFBR2):c.94+15937GAAAAA[2] rs58094038
NM_003242.6(TGFBR2):c.95-3057C>G rs72849374
NM_003242.6(TGFBR2):c.95-3300G>C rs12493607

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