List of variants in gene CCM2, LOC129998395 studied for cerebral cavernous malformation

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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.1A>G (p.Met1Val)	rs137852842
NM_031443.4(CCM2):c.23del (p.Gly8fs)	rs1562848466
NM_031443.4(CCM2):c.30+1G>A	rs1562848479
NM_031443.4(CCM2):c.30+5G>T
NM_031443.4(CCM2):c.30+5_30+6delinsTT	rs797044623
NM_031443.4(CCM2):c.30G>A (p.Lys10=)	rs1583819255
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)	rs1795541254

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