ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by MGZ Medical Genetics Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.2038C>T (p.Arg680Cys) rs764044031 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006231.4(POLE):c.109C>T (p.Arg37Trp) rs753101641 0.00001
NM_006231.4(POLE):c.2114G>A (p.Arg705Gln) rs773738016 0.00001
NM_006231.4(POLE):c.631A>T (p.Ile211Leu) rs1064796126 0.00001
NM_006231.4(POLE):c.6325T>C (p.Cys2109Arg) rs1387352431 0.00001
NM_006231.4(POLE):c.1168del (p.Gln390fs)
NM_006231.4(POLE):c.1742C>G (p.Ala581Gly) rs753890723
NM_006231.4(POLE):c.3566T>A (p.Leu1189Gln)
NM_006231.4(POLE):c.3927T>A (p.Asp1309Glu)
NM_006231.4(POLE):c.407A>T (p.Lys136Ile) rs752771738

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