ClinVar Miner

List of variants in gene CD55 studied for Protein-losing enteropathy

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000574.5(CD55):c.148G>T (p.Glu50Ter) rs773074921 0.00001
NM_000574.5(CD55):c.596C>T (p.Ser199Leu) rs1135402914 0.00001
NM_000574.5(CD55):c.110del (p.Gly37fs) rs1135402915
NM_000574.5(CD55):c.148G>A (p.Glu50Lys)
NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs) rs1135402916
NM_000574.5(CD55):c.287-1G>A rs1135402918
NM_000574.5(CD55):c.43del (p.Leu15fs) rs1114167430
NM_000574.5(CD55):c.800G>C (p.Cys267Ser) rs1135402917
NM_000574.5(CD55):c.98G>A (p.Trp33Ter)

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