ClinVar Miner

List of variants in gene ERBB2 reported by ITMI

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004448.4(ERBB2):c.3508C>G (p.Pro1170Ala) rs1058808 0.51403
NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) rs1136201 0.17488
NM_001289936.2(ERBB2):c.22C>A (p.Pro8Thr) rs4252596 0.08405
NM_004448.4(ERBB2):c.1021+48C>T rs4252625 0.02884
NM_004448.4(ERBB2):c.1356G>T (p.Trp452Cys) rs4252633 0.01487
NM_004448.4(ERBB2):c.3647C>A (p.Ala1216Asp) rs55943169 0.00587
NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) rs1801201 0.00526
NM_004448.4(ERBB2):c.236A>C (p.Glu79Ala) rs61737968 0.00277
NM_004448.4(ERBB2):c.3482G>A (p.Arg1161Gln) rs150680317 0.00234
NM_004448.4(ERBB2):c.1021+19C>T rs139636338 0.00155
NM_004448.4(ERBB2):c.1466C>T (p.Pro489Leu) rs142456637 0.00069
NM_004448.4(ERBB2):c.140G>A (p.Arg47His) rs144019910 0.00058
NM_004448.4(ERBB2):c.43C>T (p.Leu15Phe) rs193171026 0.00053
NM_004448.4(ERBB2):c.2790G>T (p.Glu930Asp) rs138957632 0.00036
NM_004448.4(ERBB2):c.428G>A (p.Arg143Gln) rs185670819 0.00019
NM_004448.4(ERBB2):c.3182T>C (p.Leu1061Pro) rs141142822 0.00009
NM_004448.4(ERBB2):c.1021+31C>T rs374621897 0.00004
NM_004448.4(ERBB2):c.1793C>A (p.Ala598Asp) rs145409713 0.00004
NM_004448.4(ERBB2):c.734C>T (p.Thr245Met) rs376183465 0.00004
NM_004448.4(ERBB2):c.1169C>T (p.Ala390Val) rs587778264 0.00003
NM_004448.4(ERBB2):c.3620C>T (p.Pro1207Leu) rs145772320 0.00003
NM_004448.4(ERBB2):c.133A>G (p.Met45Val) rs587778266 0.00001
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg) rs368094521 0.00001
NM_004448.4(ERBB2):c.3427C>A (p.Pro1143Thr) rs587778268 0.00001
NM_004448.4(ERBB2):c.3428C>T (p.Pro1143Leu) rs587778269 0.00001
NM_004448.4(ERBB2):c.383C>G (p.Pro128Arg) rs373824622 0.00001
NM_004448.4(ERBB2):c.1157C>A (p.Ala386Asp) rs141116145
NM_004448.4(ERBB2):c.1231T>G (p.Tyr411Asp) rs587778265
NM_004448.4(ERBB2):c.2440C>T (p.Arg814Cys) rs587778267
NM_004448.4(ERBB2):c.3689G>T (p.Arg1230Leu) rs372043866
NM_004448.4(ERBB2):c.433C>T (p.Leu145Phe) rs527779103
NM_004448.4(ERBB2):c.93G>T (p.Met31Ile) rs546886845

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