ClinVar Miner

List of variants studied for colorectal neoplasm by Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_002354.3(EPCAM):c.903+1G>A rs751264236 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_000038.6(APC):c.1370C>A (p.Ser457Ter) rs1060503333
NM_000051.4(ATM):c.3284+1G>T rs864622129
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1A>T (p.Met1Leu) rs587778967
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.884+3A>C rs267607803
NM_001048174.2(MUTYH):c.420+19_420+31del rs781222233
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs) rs1060502734

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