ClinVar Miner

List of variants in gene CCM2 reported as likely benign for cerebral cavernous malformation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
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.735C>T (p.Ser245=) rs199682975 0.00053
NM_031443.4(CCM2):c.126G>A (p.Leu42=) rs146579519 0.00021
NM_031443.4(CCM2):c.1284C>T (p.Ile428=) rs144918172 0.00020
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu) rs143962510 0.00011
NM_031443.4(CCM2):c.568G>A (p.Val190Met) rs200358025 0.00011
NM_031443.4(CCM2):c.612C>T (p.Val204=) rs181474100 0.00004
NM_031443.4(CCM2):c.48A>T (p.Pro16=) rs142320735 0.00003
NM_031443.4(CCM2):c.1023C>A (p.Leu341=) rs1174989938 0.00001
NM_031443.4(CCM2):c.1026C>T (p.Tyr342=) rs556953955 0.00001
NM_031443.4(CCM2):c.472+16G>A rs1798687606 0.00001
NM_031443.4(CCM2):c.777G>A (p.Glu259=) rs765305537 0.00001
NM_031443.4(CCM2):c.1134C>T (p.Arg378=)
NM_031443.4(CCM2):c.1164C>T (p.His388=)
NM_031443.4(CCM2):c.120C>T (p.Arg40=)
NM_031443.4(CCM2):c.1278G>A (p.Ser426=) rs371498958
NM_031443.4(CCM2):c.1299G>A (p.Glu433=) rs1784232769
NM_031443.4(CCM2):c.156C>T (p.Arg52=)
NM_031443.4(CCM2):c.180C>T (p.Ser60=)
NM_031443.4(CCM2):c.204+11A>G
NM_031443.4(CCM2):c.205-18T>G rs2128747278
NM_031443.4(CCM2):c.288+11C>T
NM_031443.4(CCM2):c.289-14G>A
NM_031443.4(CCM2):c.31-14G>A
NM_031443.4(CCM2):c.357C>T (p.Asn119=)
NM_031443.4(CCM2):c.472+13A>G
NM_031443.4(CCM2):c.472+17G>C rs1447843130
NM_031443.4(CCM2):c.48A>G (p.Pro16=)
NM_031443.4(CCM2):c.544C>T (p.Leu182=)
NM_031443.4(CCM2):c.549G>A (p.Ser183=)
NM_031443.4(CCM2):c.55C>A (p.Arg19=)
NM_031443.4(CCM2):c.609+18C>T rs201140198
NM_031443.4(CCM2):c.636G>T (p.Leu212=)
NM_031443.4(CCM2):c.684T>C (p.Phe228=)
NM_031443.4(CCM2):c.732G>A (p.Leu244=)
NM_031443.4(CCM2):c.745+19G>A
NM_031443.4(CCM2):c.746-17C>T
NM_031443.4(CCM2):c.783C>T (p.Tyr261=)
NM_031443.4(CCM2):c.804-14A>T
NM_031443.4(CCM2):c.885C>T (p.Ala295=)
NM_031443.4(CCM2):c.915+16A>G
NM_031443.4(CCM2):c.916-3C>T rs373072247
NM_031443.4(CCM2):c.916-7C>T

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