ClinVar Miner

List of variants reported as benign for colorectal cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2476A>G (p.Asn826Asp) rs175081 0.98791
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=) rs13712 0.52176
NM_001040108.2(MLH3):c.*3148A>G rs108621 0.42508
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu) rs175080 0.42416
NM_001040108.2(MLH3):c.*2417G>A rs175049 0.40460
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_001040108.2(MLH3):c.*1877T>C rs108622 0.39486
NM_001040108.2(MLH3):c.*958G>T rs398896 0.39375
NM_001040108.2(MLH3):c.*957C>A rs424120 0.39343
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000251.2(MSH2):c.-118T>C rs2303425 0.10354
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_001040108.2(MLH3):c.*2965C>T rs10134636 0.03135
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His) rs28756991 0.02060
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001040108.2(MLH3):c.3987+7C>A rs28757028 0.00219
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln) rs28756984 0.00168
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000535.6(PMS2):c.-53G>A rs559634583
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile) rs28756990

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