ClinVar Miner

List of variants in gene AFG3L2 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_006796.3(AFG3L2):c.1650= (p.Glu550=) rs11553521 0.22376
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=) rs777264204 0.00009
NM_006796.3(AFG3L2):c.1479G>A (p.Pro493=) rs761143170 0.00006
NM_006796.3(AFG3L2):c.1951A>C (p.Arg651=) rs764254189 0.00006
NM_006796.3(AFG3L2):c.2047A>G (p.Met683Val) rs751855138 0.00005
NM_006796.3(AFG3L2):c.530A>G (p.Asn177Ser) rs371921200 0.00005
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006796.3(AFG3L2):c.1736C>T (p.Ala579Val) rs551042055 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006796.3(AFG3L2):c.292+2T>C rs779805236 0.00003
NM_006796.3(AFG3L2):c.376C>T (p.His126Tyr) rs752336670 0.00003
NM_006796.3(AFG3L2):c.433A>T (p.Met145Leu) rs200249258 0.00002
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00002
NM_006796.3(AFG3L2):c.1233G>A (p.Ala411=) rs774375813 0.00001
NM_006796.3(AFG3L2):c.1814A>G (p.Tyr605Cys) rs773240455 0.00001
NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg) rs774546735 0.00001
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.31C>G (p.Arg11Gly) rs1050447923 0.00001
NM_006796.3(AFG3L2):c.342C>T (p.Gly114=) rs1370183248 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val) rs2143191701
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser) rs1191222406
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.113C>A (p.Thr38Lys) rs1285632115
NM_006796.3(AFG3L2):c.1167C>T (p.Val389=) rs1282576516
NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del) rs749105981
NM_006796.3(AFG3L2):c.1339GTC[1] (p.Val448del) rs773169376
NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)
NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=)
NM_006796.3(AFG3L2):c.1712_1713del (p.Val571fs) rs1598825313
NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly)
NM_006796.3(AFG3L2):c.1780-4C>T rs1477129589
NM_006796.3(AFG3L2):c.1981-3C>A rs1487683840
NM_006796.3(AFG3L2):c.1984G>T (p.Val662Phe) rs1555670564
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2025T>A (p.Phe675Leu) rs1907788208
NM_006796.3(AFG3L2):c.2060A>C (p.Lys687Thr)
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala) rs797045221
NM_006796.3(AFG3L2):c.2063C>T (p.Pro688Leu) rs2143111468
NM_006796.3(AFG3L2):c.2069G>A (p.Ser690Asn) rs1568133901
NM_006796.3(AFG3L2):c.2092G>T (p.Asp698Tyr) rs1598820833
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.3(AFG3L2):c.786C>G (p.Leu262=) rs1325788944
NM_006796.3(AFG3L2):c.863T>C (p.Leu288Pro) rs1598833620
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)

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