ClinVar Miner

List of variants in gene AFG3L2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
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.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_006796.3(AFG3L2):c.1202C>T (p.Pro401Leu) rs752662018 0.00014
NM_006796.3(AFG3L2):c.173T>C (p.Ile58Thr) rs779882681 0.00009
NM_006796.3(AFG3L2):c.1866G>A (p.Leu622=) rs777264204 0.00009
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr) rs374828650 0.00005
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.1706A>C (p.Lys569Thr) rs758811358 0.00004
NM_006796.3(AFG3L2):c.1736C>T (p.Ala579Val) rs551042055 0.00004
NM_006796.3(AFG3L2):c.292+2T>C rs779805236 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006796.3(AFG3L2):c.376C>T (p.His126Tyr) rs752336670 0.00003
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp) rs768999765 0.00003
NM_006796.3(AFG3L2):c.1536A>C (p.Leu512Phe) rs768121027 0.00002
NM_006796.3(AFG3L2):c.1646T>C (p.Ile549Thr) rs757821473 0.00002
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) rs778455371 0.00002
NM_006796.3(AFG3L2):c.433A>T (p.Met145Leu) rs200249258 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006796.3(AFG3L2):c.76G>A (p.Gly26Ser) rs746437793 0.00002
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00002
NM_006796.3(AFG3L2):c.1114G>A (p.Val372Ile) rs1908507908 0.00001
NM_006796.3(AFG3L2):c.1186G>A (p.Ala396Thr) rs886044707 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1765G>C (p.Asp589His) rs139192793 0.00001
NM_006796.3(AFG3L2):c.1796G>A (p.Arg599His) rs1263405472 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.1895G>A (p.Arg632Gln) rs1320367366 0.00001
NM_006796.3(AFG3L2):c.1933G>A (p.Gly645Ser) rs201231686 0.00001
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys) rs551015841 0.00001
NM_006796.3(AFG3L2):c.214+3A>G rs1598840248 0.00001
NM_006796.3(AFG3L2):c.31C>G (p.Arg11Gly) rs1050447923 0.00001
NM_006796.3(AFG3L2):c.344G>A (p.Gly115Asp) rs865891494 0.00001
NM_006796.3(AFG3L2):c.346G>A (p.Gly116Arg) rs1178773058 0.00001
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile) rs915684170 0.00001
NM_006796.3(AFG3L2):c.580C>T (p.Arg194Cys) rs1020519204 0.00001
NM_006796.3(AFG3L2):c.811A>G (p.Ile271Val) rs781266429 0.00001
NM_006796.3(AFG3L2):c.848G>A (p.Arg283Gln) rs758696616 0.00001
NC_000018.9:g.(?_12329564)_(12377081_?)dup
NC_000018.9:g.(?_12363761)_(12377081_?)del
NM_006796.3(AFG3L2):c.1003G>C (p.Asp335His)
NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val) rs2143191701
NM_006796.3(AFG3L2):c.1028G>T (p.Gly343Val)
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser) rs1191222406
NM_006796.3(AFG3L2):c.1052G>A (p.Gly351Asp) rs863223891
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.1081A>G (p.Thr361Ala)
NM_006796.3(AFG3L2):c.1096A>G (p.Asn366Asp)
NM_006796.3(AFG3L2):c.10C>G (p.Arg4Gly)
NM_006796.3(AFG3L2):c.113C>A (p.Thr38Lys) rs1285632115
NM_006796.3(AFG3L2):c.114+3G>A
NM_006796.3(AFG3L2):c.1144G>A (p.Val382Ile)
NM_006796.3(AFG3L2):c.1164A>G (p.Arg388=)
NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)
NM_006796.3(AFG3L2):c.1187C>T (p.Ala396Val)
NM_006796.3(AFG3L2):c.1199C>G (p.Ala400Gly)
NM_006796.3(AFG3L2):c.11_12delinsAT (p.Arg4His)
NM_006796.3(AFG3L2):c.1208T>C (p.Ile403Thr)
NM_006796.3(AFG3L2):c.1216A>G (p.Ile406Val)
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_006796.3(AFG3L2):c.1237G>A (p.Gly413Arg) rs1598830386
NM_006796.3(AFG3L2):c.1238G>A (p.Gly413Glu)
NM_006796.3(AFG3L2):c.1244A>G (p.Lys415Arg)
NM_006796.3(AFG3L2):c.1284G>T (p.Glu428Asp) rs1168932758
NM_006796.3(AFG3L2):c.1295A>G (p.Asn432Ser) rs151344512
NM_006796.3(AFG3L2):c.1316A>G (p.Asp439Gly)
NM_006796.3(AFG3L2):c.1318+6T>A
NM_006796.3(AFG3L2):c.1319-8T>A
NM_006796.3(AFG3L2):c.1326T>G (p.Asn442Lys)
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del) rs749105981
NM_006796.3(AFG3L2):c.1330A>G (p.Thr444Ala) rs1908311940
NM_006796.3(AFG3L2):c.1339GTC[1] (p.Val448del) rs773169376
NM_006796.3(AFG3L2):c.1342G>A (p.Val448Ile)
NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)
NM_006796.3(AFG3L2):c.1397C>T (p.Pro466Leu) rs375098002
NM_006796.3(AFG3L2):c.1426+25_1426+30dup rs574904377
NM_006796.3(AFG3L2):c.1465G>A (p.Val489Ile)
NM_006796.3(AFG3L2):c.1475G>A (p.Arg492Gln)
NM_006796.3(AFG3L2):c.148A>G (p.Ser50Gly) rs1568147292
NM_006796.3(AFG3L2):c.1496C>T (p.Thr499Ile) rs2143164464
NM_006796.3(AFG3L2):c.14G>A (p.Cys5Tyr)
NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=)
NM_006796.3(AFG3L2):c.1528G>A (p.Ala510Thr)
NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser) rs1005670966
NM_006796.3(AFG3L2):c.1558G>C (p.Asp520His)
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
NM_006796.3(AFG3L2):c.161T>G (p.Leu54Arg) rs2143234608
NM_006796.3(AFG3L2):c.1650A>T (p.Glu550Asp)
NM_006796.3(AFG3L2):c.1679C>T (p.Thr560Met)
NM_006796.3(AFG3L2):c.167C>G (p.Thr56Arg)
NM_006796.3(AFG3L2):c.1684G>C (p.Val562Leu)
NM_006796.3(AFG3L2):c.1725A>T (p.Glu575Asp)
NM_006796.3(AFG3L2):c.1730G>C (p.Gly577Ala)
NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly)
NM_006796.3(AFG3L2):c.1744G>T (p.Gly582Cys)
NM_006796.3(AFG3L2):c.1780-4C>T rs1477129589
NM_006796.3(AFG3L2):c.1780G>A (p.Val594Ile) rs1057524515
NM_006796.3(AFG3L2):c.1846T>C (p.Tyr616His) rs1598822921
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val) rs756912142
NM_006796.3(AFG3L2):c.1879A>T (p.Met627Leu) rs1907906987
NM_006796.3(AFG3L2):c.1930A>G (p.Thr644Ala)
NM_006796.3(AFG3L2):c.1931C>G (p.Thr644Ser)
NM_006796.3(AFG3L2):c.1948T>G (p.Leu650Val) rs1907903994
NM_006796.3(AFG3L2):c.1952G>A (p.Arg651Lys)
NM_006796.3(AFG3L2):c.195C>G (p.Phe65Leu) rs1908993127
NM_006796.3(AFG3L2):c.1961C>A (p.Thr654Asn)
NM_006796.3(AFG3L2):c.1970C>T (p.Ala657Val)
NM_006796.3(AFG3L2):c.1981-3C>A rs1487683840
NM_006796.3(AFG3L2):c.1984G>T (p.Val662Phe) rs1555670564
NM_006796.3(AFG3L2):c.2024T>C (p.Phe675Ser) rs2143111750
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.2101G>A (p.Val701Ile) rs1598820822
NM_006796.3(AFG3L2):c.2113A>G (p.Ile705Val)
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2125T>C (p.Tyr709His)
NM_006796.3(AFG3L2):c.2132G>T (p.Arg711Ile)
NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr)
NM_006796.3(AFG3L2):c.2150C>T (p.Thr717Ile)
NM_006796.3(AFG3L2):c.2167G>T (p.Val723Leu) rs139469785
NM_006796.3(AFG3L2):c.2172G>T (p.Glu724Asp)
NM_006796.3(AFG3L2):c.272A>G (p.Glu91Gly)
NM_006796.3(AFG3L2):c.283G>C (p.Glu95Gln)
NM_006796.3(AFG3L2):c.293A>C (p.Glu98Ala)
NM_006796.3(AFG3L2):c.29G>A (p.Gly10Asp)
NM_006796.3(AFG3L2):c.311C>T (p.Thr104Ile)
NM_006796.3(AFG3L2):c.317G>A (p.Arg106His)
NM_006796.3(AFG3L2):c.32G>C (p.Arg11Pro)
NM_006796.3(AFG3L2):c.343G>A (p.Gly115Ser)
NM_006796.3(AFG3L2):c.346G>C (p.Gly116Arg)
NM_006796.3(AFG3L2):c.355G>A (p.Gly119Ser) rs2143217969
NM_006796.3(AFG3L2):c.397A>C (p.Lys133Gln)
NM_006796.3(AFG3L2):c.399+5G>C
NM_006796.3(AFG3L2):c.3G>A (p.Met1Ile)
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.3(AFG3L2):c.46C>T (p.Pro16Ser)
NM_006796.3(AFG3L2):c.472A>C (p.Met158Leu) rs559781535
NM_006796.3(AFG3L2):c.472A>G (p.Met158Val)
NM_006796.3(AFG3L2):c.487C>T (p.Leu163Phe)
NM_006796.3(AFG3L2):c.50G>A (p.Arg17His)
NM_006796.3(AFG3L2):c.52G>C (p.Gly18Arg) rs1342360644
NM_006796.3(AFG3L2):c.53G>T (p.Gly18Val) rs866272063
NM_006796.3(AFG3L2):c.549A>G (p.Gly183=)
NM_006796.3(AFG3L2):c.55C>G (p.Leu19Val)
NM_006796.3(AFG3L2):c.567A>G (p.Glu189=)
NM_006796.3(AFG3L2):c.59A>T (p.Gln20Leu)
NM_006796.3(AFG3L2):c.605C>G (p.Pro202Arg)
NM_006796.3(AFG3L2):c.605C>T (p.Pro202Leu)
NM_006796.3(AFG3L2):c.623A>T (p.Asp208Val)
NM_006796.3(AFG3L2):c.632A>G (p.Tyr211Cys)
NM_006796.3(AFG3L2):c.662C>T (p.Thr221Ile)
NM_006796.3(AFG3L2):c.688C>G (p.Gln230Glu)
NM_006796.3(AFG3L2):c.704T>C (p.Ile235Thr)
NM_006796.3(AFG3L2):c.706G>A (p.Glu236Lys)
NM_006796.3(AFG3L2):c.715A>G (p.Asn239Asp)
NM_006796.3(AFG3L2):c.719G>A (p.Arg240Gln)
NM_006796.3(AFG3L2):c.753C>G (p.Gly251=)
NM_006796.3(AFG3L2):c.790A>G (p.Ile264Val)
NM_006796.3(AFG3L2):c.7C>T (p.His3Tyr) rs1909186789
NM_006796.3(AFG3L2):c.802C>G (p.Leu268Val) rs1555672386
NM_006796.3(AFG3L2):c.82G>A (p.Val28Met)
NM_006796.3(AFG3L2):c.832A>G (p.Ile278Val)
NM_006796.3(AFG3L2):c.839G>A (p.Arg280Gln)
NM_006796.3(AFG3L2):c.842C>T (p.Thr281Ile)
NM_006796.3(AFG3L2):c.854T>G (p.Met285Arg) rs1057524764
NM_006796.3(AFG3L2):c.863T>C (p.Leu288Pro) rs1598833620
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
NM_006796.3(AFG3L2):c.869G>A (p.Ser290Asn)
NM_006796.3(AFG3L2):c.869G>T (p.Ser290Ile)
NM_006796.3(AFG3L2):c.88C>T (p.Pro30Ser)
NM_006796.3(AFG3L2):c.901G>C (p.Asp301His)
NM_006796.3(AFG3L2):c.908T>C (p.Ile303Thr)
NM_006796.3(AFG3L2):c.910G>A (p.Asp304Asn)
NM_006796.3(AFG3L2):c.937T>C (p.Cys313Arg)

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