ClinVar Miner

List of variants in gene AFG3L2 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.553-95G>A rs2298542 0.77650
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_006796.3(AFG3L2):c.1779+260T>C rs4797677 0.71042
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.753-273T>A rs28372882 0.67775
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_006796.3(AFG3L2):c.627+98G>A rs2298543 0.20657
NM_006796.2(AFG3L2):c.-468T>C rs9964437 0.19443
NC_000018.10:g.12377426A>G rs12458283 0.15235
NM_006796.3(AFG3L2):c.293-61A>G rs8093375 0.15096
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_006796.3(AFG3L2):c.1981-154C>G rs78550590 0.13671
NM_006796.3(AFG3L2):c.1319-264C>G rs7505821 0.11390
NM_006796.3(AFG3L2):c.1663+273G>A rs7229258 0.10859
NM_006796.3(AFG3L2):c.2176-142C>T rs74593099 0.10716
NM_006796.3(AFG3L2):c.1980+233G>A rs113975619 0.09874
NM_006796.3(AFG3L2):c.1165-21T>A rs9966470 0.09870
NM_006796.3(AFG3L2):c.1165-225C>T rs12458831 0.06404
NM_006796.3(AFG3L2):c.1664-39G>A rs75206140 0.05745
NM_006796.3(AFG3L2):c.552+27G>A rs16977144 0.03676
NM_006796.3(AFG3L2):c.293-225G>A rs73401932 0.03672
NM_006796.3(AFG3L2):c.292+94C>T rs113905513 0.03157
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_006796.3(AFG3L2):c.1164+252C>T rs115920029 0.02305
NM_006796.3(AFG3L2):c.1165-251C>T rs139292241 0.02299
NM_006796.3(AFG3L2):c.1981-228A>G rs56079355 0.02072
NM_006796.3(AFG3L2):c.2176-273G>A rs112397313 0.01899
NM_006796.3(AFG3L2):c.2175+18G>A rs117096851 0.01094
NM_006796.3(AFG3L2):c.2175+130T>A rs80302688 0.00543
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_006796.3(AFG3L2):c.1981-14T>C rs765707984 0.00002
NC_000018.10:g.12377416C>T rs9964406
NM_006796.3(AFG3L2):c.1319-150dup rs34791958
NM_006796.3(AFG3L2):c.1663+181T>C rs73398089
NM_006796.3(AFG3L2):c.1780-196del rs59938992
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006796.3(AFG3L2):c.753-55T>C rs7407640

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