ClinVar Miner

List of variants studied for Immunodeficiency due to ficolin3 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003665.4(FCN3):c.750C>T (p.His250=) rs28385652 0.00249
NM_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00087
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899

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