ClinVar Miner

List of variants reported as uncertain significance for colorectal cancer, susceptibility to, 12 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4006-3C>T rs1593748957 0.00001
NM_006231.4(POLE):c.4970T>C (p.Ile1657Thr) rs1060500827 0.00001
NM_006231.4(POLE):c.5371A>G (p.Thr1791Ala) rs775102459 0.00001
NM_006231.4(POLE):c.6041G>A (p.Gly2014Glu) rs757480645 0.00001
NM_006231.4(POLE):c.893A>G (p.Tyr298Cys) rs2043057513 0.00001
NC_000012.11:g.(?_132414268)_(133263901_?)dup
NC_000012.11:g.(?_133201273)_(133263911_?)dup
NC_000012.11:g.(?_133210817)_(133211013_?)dup
NC_000012.11:g.(?_133222176)_133226475del
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_000012.11:g.(?_133263834)_(133263907_?)del
NC_000012.12:g.(?_132624677)_(132687335_?)dup
NC_000012.12:g.(?_132624687)_(132626327_?)del
NC_000012.12:g.(?_132624687)_(132626327_?)dup
NC_000012.12:g.(?_132624687)_(132632805_?)dup
NC_000012.12:g.(?_132624687)_(132673717_?)del
NC_000012.12:g.(?_132624687)_(132681289_?)dup
NC_000012.12:g.(?_132624697)_(132626327_?)dup
NC_000012.12:g.(?_132624697)_(132687315_?)dup
NC_000012.12:g.(?_132632295)_(132687335_?)dup
NC_000012.12:g.(?_132632305)_(132687315_?)dup
NC_000012.12:g.(?_132632309)_(132636030_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)del
NC_000012.12:g.(?_132657126)_(132687325_?)dup
NC_000012.12:g.(?_132660959)_(132687325_?)dup
NC_000012.12:g.(?_132687244)_(132687315_?)dup
NC_000012.12:g.(?_132687244)_(132687325_?)del
NM_006231.3(POLE):c.63-?_1794+?dup1732
NM_006231.4(POLE):c.1067C>T (p.Pro356Leu) rs1593077523
NM_006231.4(POLE):c.1073T>C (p.Ile358Thr) rs1593077499
NM_006231.4(POLE):c.1161A>G (p.Ile387Met)
NM_006231.4(POLE):c.1460T>C (p.Met487Thr) rs2042969483
NM_006231.4(POLE):c.1523A>G (p.Gln508Arg) rs1003970392
NM_006231.4(POLE):c.1726A>G (p.Lys576Glu) rs745745342
NM_006231.4(POLE):c.1738C>T (p.His580Tyr) rs371149234
NM_006231.4(POLE):c.1946C>A (p.Ala649Asp) rs2042854832
NM_006231.4(POLE):c.2085C>G (p.Phe695Leu)
NM_006231.4(POLE):c.2253C>G (p.Asn751Lys) rs1239144686
NM_006231.4(POLE):c.238A>G (p.Ser80Gly)
NM_006231.4(POLE):c.2522A>G (p.Asn841Ser) rs2042746339
NM_006231.4(POLE):c.2711G>T (p.Gly904Val) rs1332965505
NM_006231.4(POLE):c.2770C>A (p.Arg924Ser) rs369751686
NM_006231.4(POLE):c.2783G>C (p.Ser928Thr) rs2042683635
NM_006231.4(POLE):c.2863A>G (p.Arg955Gly) rs2042681407
NM_006231.4(POLE):c.3060G>A (p.Lys1020=) rs878854858
NM_006231.4(POLE):c.3107A>T (p.Asn1036Ile) rs2138678125
NM_006231.4(POLE):c.3124A>G (p.Lys1042Glu) rs2042630923
NM_006231.4(POLE):c.3265G>C (p.Val1089Leu)
NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly) rs2042569982
NM_006231.4(POLE):c.3437C>G (p.Thr1146Ser) rs1555225192
NM_006231.4(POLE):c.3583_4150-1613del
NM_006231.4(POLE):c.3589_3590insGGTC (p.Met1197fs) rs2138615789
NM_006231.4(POLE):c.3608A>T (p.Asp1203Val) rs2042383988
NM_006231.4(POLE):c.3629C>T (p.Pro1210Leu) rs1593751410
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala) rs1025864203
NM_006231.4(POLE):c.4102G>C (p.Val1368Leu) rs770558983
NM_006231.4(POLE):c.4188_4192del (p.Asn1396fs) rs2042216340
NM_006231.4(POLE):c.423+2_423+4delinsAGT rs2043133267
NM_006231.4(POLE):c.4265A>G (p.Asp1422Gly) rs2138558884
NM_006231.4(POLE):c.4370G>A (p.Gly1457Asp) rs776534749
NM_006231.4(POLE):c.4585C>G (p.Leu1529Val) rs1060504041
NM_006231.4(POLE):c.4762C>G (p.Gln1588Glu)
NM_006231.4(POLE):c.5108G>C (p.Cys1703Ser) rs961736994
NM_006231.4(POLE):c.5179G>T (p.Val1727Leu) rs2042151724
NM_006231.4(POLE):c.5194C>G (p.Gln1732Glu) rs2042151210
NM_006231.4(POLE):c.5233G>A (p.Val1745Ile) rs1593728098
NM_006231.4(POLE):c.532A>G (p.Arg178Gly) rs2043122950
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val) rs2138523727
NM_006231.4(POLE):c.5398G>T (p.Val1800Leu) rs199777048
NM_006231.4(POLE):c.5437T>C (p.Tyr1813His) rs1180742425
NM_006231.4(POLE):c.5465A>G (p.Tyr1822Cys) rs1002181208
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.5722T>A (p.Ser1908Thr) rs2042024407
NM_006231.4(POLE):c.5779G>C (p.Gly1927Arg) rs2138485262
NM_006231.4(POLE):c.5949G>T (p.Leu1983Phe) rs2041990225
NM_006231.4(POLE):c.5995A>G (p.Ile1999Val) rs2041988946
NM_006231.4(POLE):c.60C>G (p.Ser20Arg) rs770124075
NM_006231.4(POLE):c.6142A>T (p.Ile2048Phe) rs2138461658
NM_006231.4(POLE):c.6839A>G (p.Lys2280Arg) rs2138421700
NM_006231.4(POLE):c.824A>G (p.Asp275Gly) rs1565976801
NM_006231.4(POLE):c.887T>C (p.Ile296Thr)

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