ClinVar Miner

List of variants in gene TGFBR2 reported as likely benign for retinal disorder

Included ClinVar conditions (510):
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.264-289G>A rs6790706 0.89885
NM_003242.6(TGFBR2):c.264-35T>G rs11466495 0.00944
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00832
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471 0.00039
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.-371A>C rs886058297 0.00010
NM_003242.6(TGFBR2):c.95-20A>G rs371326218 0.00010
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser) rs1305653433 0.00008
NM_003242.6(TGFBR2):c.-307C>T rs749340193 0.00006
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=) rs574133875 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.-59C>G rs1002352692 0.00003
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=) rs774840447 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.94+16308T>C rs770994456 0.00002
NM_003242.6(TGFBR2):c.-31G>A rs767154664 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_003242.6(TGFBR2):c.94+6T>G rs1269699495 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.5(TGFBR2):c.-388C>T rs1697919506
NM_003242.6(TGFBR2):c.-13A>C rs1697931973
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.135C>T (p.Val45=) rs1575143681
NM_003242.6(TGFBR2):c.156A>G (p.Lys52=) rs1698701197
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
NM_003242.6(TGFBR2):c.207C>T (p.Ser69=) rs1559456575
NM_003242.6(TGFBR2):c.222C>T (p.Thr74=) rs112864356
NM_003242.6(TGFBR2):c.261A>C (p.Val87=)
NM_003242.6(TGFBR2):c.263+7_263+9delinsGAC rs1064794518
NM_003242.6(TGFBR2):c.264-11C>T rs911305377
NM_003242.6(TGFBR2):c.264-5T>G rs1315800025
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003242.6(TGFBR2):c.291A>G (p.Leu97=) rs374201843
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr) rs1698856374
NM_003242.6(TGFBR2):c.33G>T (p.Pro11=) rs1575125895
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.389G>A (p.Gly130Asp)
NM_003242.6(TGFBR2):c.54G>A (p.Thr18=) rs139456857
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003242.6(TGFBR2):c.94+16236G>A rs1409106424
NM_003242.6(TGFBR2):c.94+16256C>T rs143701368

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