ClinVar Miner

List of variants in gene ERBB2 studied for carcinoma

Included ClinVar conditions (269):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
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.2328_2336dup (p.Val777_Ser779dup) rs587776805
NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup) rs397516981
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) rs397516982
NM_004448.4(ERBB2):c.2494-3C>T rs104886007
NM_004448.4(ERBB2):c.2506C>T (p.Leu836=) rs104886008
NM_004448.4(ERBB2):c.2520G>A (p.Arg840=) rs104886011
NM_004448.4(ERBB2):c.2535C>T (p.Asp845=) rs137852788
NM_004448.4(ERBB2):c.2568C>T (p.Pro856=) rs104886009
NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg) rs1131692237
NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn) rs104886025

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