List of variants in gene CCM2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 17

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HGVS	dbSNP	gnomAD frequency
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.384G>A (p.Glu128=)	rs73694268	0.01100
NM_031443.4(CCM2):c.984G>A (p.Gly328=)	rs112504276	0.00732
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn)	rs2289366	0.00694
NM_031443.4(CCM2):c.804-12del	rs533909649	0.00408
NM_031443.4(CCM2):c.804-5C>T	rs145003686	0.00232
NM_031443.4(CCM2):c.246C>T (p.Pro82=)	rs148244188	0.00183
NM_031443.4(CCM2):c.1260G>A (p.Glu420=)	rs2304691	0.00136
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser)	rs150428392	0.00128
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)	rs150734280	0.00119
NM_031443.4(CCM2):c.48A>T (p.Pro16=)	rs142320735	0.00003
NM_031443.4(CCM2):c.1290C>T (p.Ser430=)	rs778959221	0.00001
NM_031443.4(CCM2):c.305dup (p.His104fs)	rs2128747608
NM_031443.4(CCM2):c.609+18C>A
NM_031443.4(CCM2):c.71del (p.Gly24fs)	rs1562881854

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