List of variants in gene CR2 reported as likely pathogenic

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)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)	rs151093663	0.00065
NM_001006658.3(CR2):c.1402+1G>A	rs372838534	0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)	rs141472681	0.00006
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)	rs751868289	0.00003
NM_001006658.3(CR2):c.1613A>G (p.His538Arg)	rs763755514	0.00001
NM_001006658.3(CR2):c.3088+1G>A	rs200320927	0.00001
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
NM_001006658.3(CR2):c.2240+1G>A
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)	rs1658388636
NM_001006658.3(CR2):c.2716+2T>C	rs2102307813
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu)	rs764859619
NM_001006658.3(CR2):c.3088+1G>T
NM_001006658.3(CR2):c.3089-1G>A	rs1365226221
NM_001006658.3(CR2):c.3188+2del	rs1658562210
NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)	rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs)	rs747832403

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