ClinVar Miner

List of variants studied for Diabetic retinopathy by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.264-289G>A rs6790706 0.89885
NM_003242.6(TGFBR2):c.-128C>G rs2306856 0.10667
NM_003242.6(TGFBR2):c.264-35T>G rs11466495 0.00876
NM_003242.5(TGFBR2):c.-302A>G rs138010137 0.00762
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
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.-193G>A rs886058301 0.00032
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.95-20A>G rs371326218 0.00010
NM_003242.6(TGFBR2):c.-371A>C rs886058297 0.00009
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00009
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.-337T>A rs1038796042 0.00006
NM_003242.6(TGFBR2):c.94+16263A>C rs200111443 0.00006
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln) rs771551560 0.00005
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_003242.6(TGFBR2):c.-195G>C rs925186023 0.00004
NM_003242.6(TGFBR2):c.-59C>G rs1002352692 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=) rs574133875 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.94+16260C>A rs113474008 0.00004
NM_003242.6(TGFBR2):c.95-3C>A rs375330013 0.00004
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=) rs774840447 0.00003
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 0.00003
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys) rs766473954 0.00002
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00002
NM_003242.6(TGFBR2):c.94+16308T>C rs770994456 0.00002
NM_003242.6(TGFBR2):c.-117G>A rs886058302 0.00001
NM_003242.6(TGFBR2):c.-26G>T rs752752584 0.00001
NM_003242.6(TGFBR2):c.-27G>C rs1469986980 0.00001
NM_003242.6(TGFBR2):c.-31G>A rs767154664 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) rs1559443652 0.00001
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser) rs1432089303 0.00001
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val) rs1060501985 0.00001
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621 0.00001
NM_003242.6(TGFBR2):c.222C>T (p.Thr74=) rs112864356 0.00001
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr) rs193922665 0.00001
NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro) rs540920930 0.00001
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) rs1182907194 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 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.-344C>T rs886058298
NM_003242.5(TGFBR2):c.-388C>T rs1697919506
NM_003242.6(TGFBR2):c.-122T>G rs1040386724
NM_003242.6(TGFBR2):c.-13A>C rs1697931973
NM_003242.6(TGFBR2):c.-18C>A rs753369354
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.-9G>T rs1406962229
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.136A>G (p.Lys46Glu) rs1553627148
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg) rs1559456531
NM_003242.6(TGFBR2):c.156A>G (p.Lys52=) rs1698701197
NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro) rs1559456557
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.207C>T (p.Ser69=) rs1559456575
NM_003242.6(TGFBR2):c.261A>C (p.Val87=) rs1266465311
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.272A>C (p.Asn91Thr) rs1559458806
NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val) rs1242885838
NM_003242.6(TGFBR2):c.291A>G (p.Leu97=) rs374201843
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003242.6(TGFBR2):c.305A>G (p.His102Arg) rs777472799
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr) rs1698856374
NM_003242.6(TGFBR2):c.325C>A (p.His109Asn) rs778838598
NM_003242.6(TGFBR2):c.326A>T (p.His109Leu) rs1553627759
NM_003242.6(TGFBR2):c.33G>T (p.Pro11=) rs1575125895
NM_003242.6(TGFBR2):c.342A>G (p.Glu114=) rs1698857092
NM_003242.6(TGFBR2):c.371A>T (p.Lys124Met) rs776374040
NM_003242.6(TGFBR2):c.372G>A (p.Lys124=) rs1212599579
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala) rs770216059
NM_003242.6(TGFBR2):c.389G>A (p.Gly130Asp) rs1698859109
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile) rs1402755105
NM_003242.6(TGFBR2):c.54G>A (p.Thr18=) rs139456857
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) rs763085648
NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val) rs1697933766
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) rs780267559
NM_003242.6(TGFBR2):c.94+16236G>A rs1409106424
NM_003242.6(TGFBR2):c.94+16256C>T rs143701368
NM_003242.6(TGFBR2):c.9G>A (p.Arg3=) rs1559443648

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