ClinVar Miner

List of variants in gene AFG3L2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
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.1202C>T (p.Pro401Leu) rs752662018 0.00014
NM_006796.3(AFG3L2):c.121C>T (p.Arg41Ter) rs1324490374 0.00010
NM_006796.3(AFG3L2):c.579G>A (p.Lys193=) rs199896352 0.00005
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006796.3(AFG3L2):c.1818T>C (p.Ala606=) rs146213373 0.00003
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_006796.3(AFG3L2):c.214+3A>G rs1598840248 0.00001
NM_006796.3(AFG3L2):c.78C>A (p.Gly26=) rs902417641 0.00001
NM_006796.3(AFG3L2):c.811A>G (p.Ile271Val) rs781266429 0.00001
NM_006796.3(AFG3L2):c.1026+1G>A rs1598833532
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.1199C>G (p.Ala400Gly)
NM_006796.3(AFG3L2):c.1237G>A (p.Gly413Arg) rs1598830386
NM_006796.3(AFG3L2):c.1330A>G (p.Thr444Ala) rs1908311940
NM_006796.3(AFG3L2):c.1342G>A (p.Val448Ile)
NM_006796.3(AFG3L2):c.1363C>T (p.Arg455Ter) rs1378484093
NM_006796.3(AFG3L2):c.1496C>T (p.Thr499Ile) rs2143164464
NM_006796.3(AFG3L2):c.1498C>T (p.Leu500=)
NM_006796.3(AFG3L2):c.1730G>C (p.Gly577Ala)
NM_006796.3(AFG3L2):c.1770G>T (p.Pro590=)
NM_006796.3(AFG3L2):c.1846T>C (p.Tyr616His) rs1598822921
NM_006796.3(AFG3L2):c.1879A>T (p.Met627Leu) rs1907906987
NM_006796.3(AFG3L2):c.1948T>G (p.Leu650Val) rs1907903994
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.2092G>T (p.Asp698Tyr) rs1598820833
NM_006796.3(AFG3L2):c.2101G>A (p.Val701Ile) rs1598820822
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2132G>T (p.Arg711Ile)
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.283G>C (p.Glu95Gln)
NM_006796.3(AFG3L2):c.355G>A (p.Gly119Ser) rs2143217969
NM_006796.3(AFG3L2):c.472A>G (p.Met158Val)
NM_006796.3(AFG3L2):c.570C>T (p.Val190=)
NM_006796.3(AFG3L2):c.632A>G (p.Tyr211Cys)
NM_006796.3(AFG3L2):c.762G>T (p.Leu254=)
NM_006796.3(AFG3L2):c.763C>T (p.Leu255=)
NM_006796.3(AFG3L2):c.780G>A (p.Thr260=)
NM_006796.3(AFG3L2):c.840G>A (p.Arg280=)
NM_006796.3(AFG3L2):c.858C>T (p.Gly286=)

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