ClinVar Miner

List of variants in gene APC reported as benign by Sema4, Sema4

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992 0.46792
NM_001127511.3(APC):c.166-29015A>T rs75581138 0.04169
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
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.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.*248A>G rs186777258 0.00487
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
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.6921G>A (p.Ser2307=) rs2229993 0.00143
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.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr) rs148223181 0.00050
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00019
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780 0.00019
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.5025T>G (p.Val1675=) rs876658169 0.00009
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000038.6(APC):c.2820G>A (p.Ser940=) rs780366551 0.00004
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.7731A>G (p.Ser2577=) rs537187449 0.00003
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.6948A>G (p.Pro2316=) rs202144406 0.00001
NM_000038.6(APC):c.259C>T (p.Leu87=) rs569640184
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.423-4dup rs730881230
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593

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