ClinVar Miner

List of variants studied 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: 80
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HGVS dbSNP
NM_000038.5(APC):c.-30226A>G rs189807660
NM_000038.5(APC):c.-30354G>C rs543098847
NM_000038.5(APC):c.-30430A>G rs554351451
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) rs1554085355
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.637C>T (p.Arg213Ter) rs587781392
NM_000038.6(APC):c.646C>T (p.Arg216Ter) rs62619935
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.694C>T (p.Arg232Ter) rs397515734
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000038.6(APC):c.847C>T (p.Arg283Ter) rs786201856
NM_000038.6(APC):c.933+1G>A rs876660765
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330
NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp) rs369232922
NM_000142.4(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425
NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667
NM_001211.5(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655
NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995
NM_001211.5(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063
NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) rs148159407
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_004655.4(AXIN2):c.1093G>A (p.Val365Met) rs761901627
NM_004655.4(AXIN2):c.1222G>A (p.Glu408Lys) rs749846538
NM_004655.4(AXIN2):c.1363C>G (p.Pro455Ala) rs779863826
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683
NM_004655.4(AXIN2):c.1553A>G (p.Tyr518Cys) rs368289818
NM_004655.4(AXIN2):c.1651T>C (p.Cys551Arg) rs730881398
NM_004655.4(AXIN2):c.1708T>G (p.Phe570Val) rs373442399
NM_004655.4(AXIN2):c.1744A>G (p.Asn582Asp) rs567511335
NM_004655.4(AXIN2):c.2000G>A (p.Ser667Asn) rs878854724
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) rs141260153
NM_004655.4(AXIN2):c.2216A>G (p.Asn739Ser) rs547630327
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515
NM_144997.7(FLCN):c.779+1G>T rs758175953

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