ClinVar Miner

List of variants in gene APC reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.-2_136-2903del
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) rs587779783
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3692_3693insA (p.His1232fs)
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765

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