ClinVar Miner

List of variants in gene TGFBR2 reported as uncertain risk allele for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.94+16245G>A rs61732532 0.00111
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
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.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045 0.00004
NM_003242.6(TGFBR2):c.94+16260C>A rs113474008 0.00004
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) rs767407566 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.-27G>C rs1469986980 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 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.76C>T (p.Pro26Ser) rs764160271 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003242.5(TGFBR2):c.-344C>T
NM_003242.6(TGFBR2):c.-228C>A rs886058300
NM_003242.6(TGFBR2):c.-249T>G rs886058299
NM_003242.6(TGFBR2):c.-26G>T
NM_003242.6(TGFBR2):c.-8G>A rs727504344
NM_003242.6(TGFBR2):c.-9G>T rs1406962229
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val) rs1698701049
NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro) rs1559456557
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser) rs1432089303
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) rs933114782
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
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.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)
NM_003242.6(TGFBR2):c.325C>A (p.His109Asn)
NM_003242.6(TGFBR2):c.326A>T (p.His109Leu) rs1553627759
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.395C>T (p.Thr132Ile) rs1402755105
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.9G>A (p.Arg3=) rs1559443648

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