List of variants in gene CCM2 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_031443.4(CCM2):c.31-10585G>C	rs2289365	0.23198
NM_031443.4(CCM2):c.915G>A (p.Thr305=)	rs2289367	0.22659
NM_031443.4(CCM2):c.358G>A (p.Val120Ile)	rs11552377	0.13068
NM_031443.4(CCM2):c.157G>A (p.Val53Ile)	rs2107732	0.06147
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn)	rs2289366	0.00694
NM_031443.4(CCM2):c.804-5C>T	rs145003686	0.00232
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)	rs2128747325

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