List of variants reported as benign for colorectal cancer by Department of Pathology and Laboratory Medicine, Sinai Health System

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 77

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HGVS	dbSNP	gnomAD frequency
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=)	rs1873778	0.96449
NM_000038.6(APC):c.5034G>A (p.Gly1678=)	rs42427	0.59504
NM_000038.6(APC):c.5880G>A (p.Pro1960=)	rs465899	0.59308
NM_000038.6(APC):c.5268T>G (p.Ser1756=)	rs866006	0.59230
NM_000038.6(APC):c.4479G>A (p.Thr1493=)	rs41115	0.59177
NM_000038.6(APC):c.1635G>A (p.Ala545=)	rs351771	0.59150
NM_000251.3(MSH2):c.211+9C>G	rs2303426	0.55454
NM_000038.6(APC):c.1458T>C (p.Tyr486=)	rs2229992	0.46792
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)	rs1042821	0.18742
NM_002691.4(POLD1):c.2244T>C (p.Ser748=)	rs1274607	0.10634
NM_000251.3(MSH2):c.1511-9A>T	rs12998837	0.09123
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)	rs1800937	0.07457
NM_000249.4(MLH1):c.1558+14G>A	rs41562513	0.05554
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	rs3219484	0.04794
NM_002691.4(POLD1):c.1548C>T (p.Ala516=)	rs2230247	0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=)	rs2230246	0.04513
NM_002691.4(POLD1):c.1860G>A (p.Thr620=)	rs1726790	0.03590
NM_002691.4(POLD1):c.971-12C>T	rs1673044	0.03582
NM_002691.4(POLD1):c.234C>G (p.Arg78=)	rs2228665	0.03571
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn)	rs1726803	0.03166
NM_002691.4(POLD1):c.1173C>T (p.Asp391=)	rs2230244	0.02764
NM_006231.4(POLE):c.3126G>A (p.Lys1042=)	rs5744856	0.02344
NM_002691.4(POLD1):c.2154+13_2154+14insA	rs3218767	0.02057
NM_006231.4(POLE):c.4290+5C>T	rs5744936	0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=)	rs5744822	0.02051
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)	rs2020913	0.02003
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)	rs4987188	0.01714
NM_002691.4(POLD1):c.1713C>T (p.Pro571=)	rs2230248	0.01698
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)	rs2229995	0.01693
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	rs1800057	0.01452
NM_000251.3(MSH2):c.1077-10T>C	rs17224360	0.01428
NM_006231.4(POLE):c.2174-8G>A	rs117409343	0.01137
NM_000038.6(APC):c.7201C>T (p.Leu2401=)	rs2229994	0.01134
NM_002691.4(POLD1):c.2862G>C (p.Thr954=)	rs3219440	0.01109
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	rs3219497	0.01092
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	rs1805318	0.01006
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)	rs33974176	0.00917
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)	rs1800146	0.00913
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)	rs2020910	0.00869
NM_000038.6(APC):c.4326T>A (p.Pro1442=)	rs67622085	0.00705
NM_006231.4(POLE):c.1470C>T (p.Asp490=)	rs5744777	0.00679
NM_000038.6(APC):c.1959G>A (p.Arg653=)	rs72541809	0.00583
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	rs1801166	0.00570
NM_000051.4(ATM):c.186-7C>T	rs55674039	0.00568
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)	rs2020908	0.00565
NM_000038.6(APC):c.1958+8T>C	rs62626346	0.00510
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	rs61756466	0.00471
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser)	rs73481453	0.00444
NM_000179.3(MSH6):c.457+13A>G	rs1800933	0.00434
NM_000251.3(MSH2):c.1662-9G>A	rs17218356	0.00398
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)	rs72541816	0.00358
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	rs41561818	0.00325
NM_000038.6(APC):c.3471G>A (p.Glu1157=)	rs143927847	0.00308
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)	rs202220778	0.00293
NM_000038.6(APC):c.3165A>T (p.Ile1055=)	rs61734287	0.00286
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)	rs143638171	0.00250
NM_000038.6(APC):c.705A>G (p.Leu235=)	rs147036141	0.00213
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	rs3219496	0.00154
NM_000251.3(MSH2):c.1387-8G>T	rs187525243	0.00143
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)	rs61756467	0.00138
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)	rs41294980	0.00087
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)	rs116952709	0.00055
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	rs61756468	0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=)	rs145792879	0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=)	rs137854575	0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)	rs17224367	0.00039
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)	rs63750252	0.00032
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	rs201830995	0.00028
NM_000038.6(APC):c.1488A>T (p.Thr496=)	rs9282599	0.00019
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)	rs63750664	0.00013
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)	rs63749886	0.00010
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)	rs55778204	0.00008
NM_000038.6(APC):c.1554G>A (p.Thr518=)	rs546568052	0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=)	rs4647220	0.00002
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)	rs576269342
NM_000179.3(MSH6):c.4002-10del	rs59056100
NM_000249.4(MLH1):c.1039-6dup	rs1553650466

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