ClinVar Miner

List of variants in gene CCM2 reported as likely benign for not provided

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_031443.4(CCM2):c.*6A>G rs144650652 0.00261
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.980A>G (p.Asn327Ser) rs150428392 0.00128
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.720G>A (p.Pro240=) rs534266433 0.00013
NM_031443.4(CCM2):c.954T>C (p.Phe318=) rs140520179 0.00005
NM_031443.4(CCM2):c.961C>T (p.Leu321=) rs754986248 0.00003
NM_031443.4(CCM2):c.345G>T (p.Leu115=) rs1400768876 0.00001
NM_031443.4(CCM2):c.871C>T (p.Leu291=) rs775584192 0.00001
NM_031443.4(CCM2):c.*15G>A rs200969851
NM_031443.4(CCM2):c.1125G>A (p.Lys375=) rs1583998841
NM_031443.4(CCM2):c.1164C>T (p.His388=)
NM_031443.4(CCM2):c.1326C>T (p.Asp442=)

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