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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.4534C>T (p.Arg1512Cys)	rs1408701335	0.00001
NM_000064.4(C3):c.2531A>G (p.Gln844Arg)	rs1599510478
NM_000064.4(C3):c.3908G>A (p.Arg1303His)	rs775015499
NM_000064.4(C3):c.640C>T (p.Pro214Ser)	rs794729228
NM_000064.4(C3):c.75-1G>A	rs112780195

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