ClinVar Miner

List of variants in gene AFG3L2 reported as benign by Athena Diagnostics Inc

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Gene type:
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Total variants: 12
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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.498C>T (p.Ser166=) rs141538541 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.1233G>A (p.Ala411=) rs774375813 0.00001

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