List of variants in gene CCM2 reported as pathogenic for not provided

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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: 21

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HGVS	dbSNP	gnomAD frequency
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	rs755800734	0.00001
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)	rs1437280900	0.00001
NC_000007.13:g.(?_45039923)_(45115656_?)del
NM_031443.4(CCM2):c.122del (p.Pro41fs)	rs1057520070
NM_031443.4(CCM2):c.1250_1251del (p.Glu417fs)	rs1562921605
NM_031443.4(CCM2):c.169_172del (p.Arg57fs)	rs1562882045
NM_031443.4(CCM2):c.174dup (p.Leu59fs)	rs1554365577
NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	rs1131691312
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	rs886041157
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)	rs2128747325
NM_031443.4(CCM2):c.289-1G>T	rs1562907365
NM_031443.4(CCM2):c.295del (p.His99fs)	rs1554375233
NM_031443.4(CCM2):c.314del (p.His104_Leu105insTer)	rs1562907455
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)	rs137852841
NM_031443.4(CCM2):c.569dup (p.Glu191fs)	rs2128749913
NM_031443.4(CCM2):c.586_589del (p.Val196fs)	rs2128749934
NM_031443.4(CCM2):c.610-1G>A	rs1562913873
NM_031443.4(CCM2):c.683_686del (p.Phe228fs)	rs1131691538
NM_031443.4(CCM2):c.71del (p.Gly24fs)	rs1562881854
NM_031443.4(CCM2):c.98_123del (p.His33fs)	rs1583901813
Single allele

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