ClinVar Miner

List of variants reported as benign for colorectal neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_000038.6(APC):c.4479G>A (p.Thr1493=) rs41115 0.59177
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000179.3(MSH6):c.3438+14A>T rs2020911 0.32279
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_000249.3(MLH1):c.-93G>A rs1800734 0.22121
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734 0.14574
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_005215.4(DCC):c.91+7G>A rs112558388 0.02064
NM_182643.3(DLC1):c.1530G>A (p.Ala510=) rs1127606 0.01715
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_182643.3(DLC1):c.2199C>T (p.Ser733=) rs34941980 0.00252
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_144997.7(FLCN):c.75G>A (p.Leu25=) rs200350612

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