ClinVar Miner

List of variants reported as pathogenic for Multiple endocrine neoplasia, type 4

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Total variants: 21
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HGVS dbSNP
GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)
NC_000012.12:g.(?_12717384)_(12718946_?)del
NC_000012.12:g.(?_12717830)_(12718956_?)del
NM_004064.4(CDKN1B):c.-29_-26delAGAG rs774454456
NM_004064.4(CDKN1B):c.-454_-451del rs786201010
NM_004064.4(CDKN1B):c.149_150GA[1] (p.Asp51fs) rs1592280833
NM_004064.4(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267
NM_004064.4(CDKN1B):c.215del (p.Gly72fs) rs1555085549
NM_004064.4(CDKN1B):c.217A>T (p.Lys73Ter) rs1592280948
NM_004064.4(CDKN1B):c.227G>A (p.Trp76Ter) rs121917832
NM_004064.4(CDKN1B):c.251T>A (p.Leu84Ter) rs1592280992
NM_004064.4(CDKN1B):c.267C>G (p.Tyr89Ter) rs532903617
NM_004064.4(CDKN1B):c.285dup (p.Lys96fs) rs1555085575
NM_004064.4(CDKN1B):c.372_373CT[1] (p.Asn124_Ser125insTer) rs786201011
NM_004064.4(CDKN1B):c.49_52del (p.Asp17fs) rs1060500186
NM_004064.4(CDKN1B):c.59_77dup (p.Ser27fs) rs786201007
NM_004064.5(CDKN1B):c.102_105del (p.Pro35fs)
NM_004064.5(CDKN1B):c.229_238dup (p.Glu80fs)
NM_004064.5(CDKN1B):c.269dup (p.Pro91fs)
NM_004064.5(CDKN1B):c.281_282insT (p.Lys96fs)
NM_004064.5(CDKN1B):c.58C>T (p.Gln20Ter)

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