ClinVar Miner

List of variants reported as benign for Complement component 3 deficiency

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Total variants: 44
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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.941C>T (p.Pro314Leu) rs1047286 0.13563
NM_000064.4(C3):c.3391-4T>C rs11569510 0.10612
NM_000064.4(C3):c.3391-6T>C rs11569509 0.10608
NM_000064.4(C3):c.3391-8T>C rs11569508 0.10606
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951 0.08524
NM_000064.4(C3):c.4631-8C>T rs11569565 0.06993
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208 0.04973
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207 0.04934
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422 0.01362
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534 0.00648
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726 0.00403
NM_000064.4(C3):c.1119+15G>A rs114252882 0.00399
NM_000064.4(C3):c.-28C>G rs339394 0.00341
NM_000064.4(C3):c.600-14C>T rs3745558 0.00289
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
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
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905

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