ClinVar Miner

List of variants in gene LOC130009266, POLE studied for classic or attenuated familial adenomatous polyposis

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_006231.4(POLE):c.-29C>G rs571026345 0.00281
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_006231.4(POLE):c.1A>C (p.Met1Leu) rs878854847 0.00019
NM_006231.4(POLE):c.20G>A (p.Gly7Glu) rs929537284 0.00004
NM_006231.4(POLE):c.-47G>T rs1014146082 0.00003
NM_006231.4(POLE):c.34G>A (p.Asp12Asn) rs1355767159 0.00002
NM_006231.4(POLE):c.43G>A (p.Ala15Thr) rs1060500788 0.00001
NM_006231.4(POLE):c.44C>T (p.Ala15Val) rs1565986587 0.00001
NC_000012.11:g.(?_133201273)_(133263911_?)dup
NC_000012.11:g.(?_133233722)_(133263945_?)dup
NC_000012.11:g.(?_133237549)_(133263907_?)dup
NC_000012.11:g.(?_133240580)_(133263911_?)dup
NC_000012.11:g.(?_133263830)_(133263911_?)dup
NC_000012.12:g.(?_132657126)_(132687325_?)del
NC_000012.12:g.(?_132687244)_(132687325_?)del
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.1A>T (p.Met1Leu) rs878854847
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.2T>G (p.Met1Arg) rs879254126
NM_006231.4(POLE):c.43G>C (p.Ala15Pro) rs1060500788
NM_006231.4(POLE):c.60C>G (p.Ser20Arg) rs770124075
NM_006231.4(POLE):c.62+1G>A
NM_006231.4(POLE):c.62+1G>C rs1565986506
NM_006231.4(POLE):c.62+9C>T rs878854890
NM_006231.4(POLE):c.7C>G (p.Leu3Val) rs1018143132

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