ClinVar Miner

List of variants studied for familial adenomatous polyposis 1 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
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_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_000038.6(APC):c.136-53T>C rs2304793 0.07347
NM_000038.6(APC):c.645+32C>T rs2909961 0.06662
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01174
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01170
NM_000038.6(APC):c.730-29A>T rs75083764 0.01144
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000038.6(APC):c.645+61C>T rs56328836 0.01110
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000038.6(APC):c.5250C>G (p.Val1750=) rs2229997 0.00497
NM_000038.6(APC):c.1408+792A>T rs77551834 0.00469
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_000038.6(APC):c.729+23T>C rs75111475 0.00381
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_000038.6(APC):c.423-16A>T rs78919815 0.00101
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_000038.6(APC):c.730-22G>C rs115634618 0.00037
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.221-29G>C rs369645686 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000038.6(APC):c.1958+126G>T rs368368751 0.00019
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.4533C>T (p.Leu1511=) rs150089434 0.00007
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.5181C>T (p.Cys1727=) rs1554086499 0.00003
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00002
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000038.6(APC):c.5823A>G (p.Pro1941=) rs770869007 0.00002
NM_000038.6(APC):c.6276A>G (p.Leu2092=) rs548566231 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.835-20A>G rs777546674 0.00002
NM_000038.6(APC):c.1564A>G (p.Met522Val) rs587781692 0.00001
NM_000038.6(APC):c.1744-14C>A rs761403505 0.00001
NM_000038.6(APC):c.459G>A (p.Lys153=) rs864622482 0.00001
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro) rs587781350 0.00001
NM_000038.6(APC):c.5541G>A (p.Thr1847=) rs777449060 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.6948A>G (p.Pro2316=) rs202144406 0.00001
NM_000038.6(APC):c.7541C>G (p.Thr2514Ser) rs747833393 0.00001
NM_000038.6(APC):c.759C>G (p.Gly253=) rs746850663 0.00001
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000038.6(APC):c.1240C>A (p.Arg414Ser) rs137854567
NM_000038.6(APC):c.1500T>C (p.Tyr500=) rs387906230
NM_000038.6(APC):c.1658G>A (p.Trp553Ter) rs863225318
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) rs137854573
NM_000038.6(APC):c.1958+1G>A rs1114167569
NM_000038.6(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.6(APC):c.220+4G>A rs973491846
NM_000038.6(APC):c.259C>T (p.Leu87=) rs569640184
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.3336_3340del (p.Asn1113fs) rs1580634177
NM_000038.6(APC):c.3795A>G (p.Glu1265=) rs1554085311
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.3971_3980del (p.Pro1324fs)
NM_000038.6(APC):c.4333dup (p.Thr1445fs) rs2149911981
NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer) rs786201118
NM_000038.6(APC):c.4683G>A (p.Lys1561=) rs774900184
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) rs1554086584
NM_000038.6(APC):c.5425A>G (p.Lys1809Glu) rs1580660009
NM_000038.6(APC):c.6347A>G (p.His2116Arg) rs760961536
NM_000038.6(APC):c.759C>T (p.Gly253=) rs746850663

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