ClinVar Miner

List of variants in gene C3 reported as pathogenic for Atypical hemolytic-uremic syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)	rs1918142335

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