ClinVar Miner

List of variants in gene TGFBR2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
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.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
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.263+17A>C rs34771516 0.00029
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1263T>G (p.Thr421=) rs1397322686 0.00001
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp) rs748418894 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg) rs193922662
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu) rs104893817
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp) rs1575158992
NM_003242.6(TGFBR2):c.1397-157_1397-153del rs1279882821
NM_003242.6(TGFBR2):c.1441C>T (p.His481Tyr) rs762756916
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1514T>C (p.Leu505Pro) rs2125452246
NM_003242.6(TGFBR2):c.1525-15_1576dup
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.437A>T (p.Asn146Ile) rs863223836
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.516C>T (p.Leu172=) rs1301321642
NM_003242.6(TGFBR2):c.699C>A (p.Asn233Lys)
NM_003242.6(TGFBR2):c.721C>T (p.Leu241=) rs2125434109
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.[1152T>A;1163A>G]

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