ClinVar Miner

List of variants reported as uncertain significance for colonic neoplasm by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001127511.3(APC):c.-204A>G rs554351451 0.00076
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995 0.00011
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) rs141260153 0.00007
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667 0.00004
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) rs368289818 0.00004
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser) rs547630327 0.00004
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931 0.00003
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660 0.00003
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met) rs761901627 0.00003
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala) rs779863826 0.00003
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526 0.00001
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) rs369232922 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) rs730881398 0.00001
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val) rs373442399 0.00001
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn) rs878854724 0.00001
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp) rs567511335
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015

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