ClinVar Miner

List of variants in gene ERBB2 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) rs397516975
NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) rs397516977
NM_004448.4(ERBB2):c.2320del (p.Met774fs) rs397516978
NM_004448.4(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Ala775_Gly776insSerValMetAla) rs397516976
NM_004448.4(ERBB2):c.2325_2326insTCCGTGATGGCT (p.Ala775_Gly776insSerValMetAla) rs1555618025
NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326_2327insTTT (p.Gly776delinsValCys) rs397516979
NM_004448.4(ERBB2):c.2326delinsTTAT (p.Gly776delinsLeuCys) rs397516980
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) rs397516982

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