ClinVar Miner

List of variants reported as benign for Complement component 3 deficiency by Genome-Nilou Lab

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000064.4(C3):c.1686+78C>T rs189367 0.99827
NM_000064.4(C3):c.3646+98A>G rs237554 0.87336
NM_000064.4(C3):c.4546+58A>G rs344555 0.80027
NM_000064.4(C3):c.2864-20A>G rs2287847 0.76762
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490 0.76736
NM_000064.4(C3):c.2246-8C>T rs406514 0.76696
NM_000064.4(C3):c.2950+48T>C rs2287848 0.70105
NM_000064.4(C3):c.2863+47G>C rs2287846 0.67951
NM_000064.4(C3):c.2797-21C>A rs2355315 0.67336
NM_000064.4(C3):c.2863+7C>T rs2287845 0.65549
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453 0.65502
NM_000064.4(C3):c.2355-23A>G rs432823 0.65496
NM_000064.4(C3):c.2440+96T>C rs433594 0.65473
NM_000064.4(C3):c.2797-29C>T rs2253756 0.65339
NM_000064.4(C3):c.4457-56A>G rs2277983 0.50710
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030 0.50596
NM_000064.4(C3):c.4457-4G>A rs2277984 0.49417
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204 0.36996
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201 0.15982
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205 0.13947
NM_000064.4(C3):c.1686+48TC[8] rs112132860
NM_000064.4(C3):c.2440+116C>G rs408290
NM_000064.4(C3):c.2441-24C>A rs366510

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