ClinVar Miner

List of variants in gene APC reported by ITMI

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Gene type:
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Total variants: 50
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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.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
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.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758 0.00324
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660 0.00038
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.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.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028 0.00013
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) rs587778033 0.00011
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500 0.00003
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly) rs371616945 0.00003
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser) rs587778036 0.00002
NM_000038.6(APC):c.2123A>G (p.Lys708Arg) rs587778030 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958 0.00001
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) rs587778042 0.00001
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala) rs587778035 0.00001
NM_000038.6(APC):c.7589G>A (p.Arg2530Gln) rs587778043 0.00001
NM_000038.6(APC):c.8182G>A (p.Val2728Met) rs587778045 0.00001
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn) rs564314108
NM_000038.6(APC):c.3052G>A (p.Asp1018Asn) rs587778038
NM_000038.6(APC):c.3197G>A (p.Arg1066Lys) rs587778039
NM_000038.6(APC):c.3325G>T (p.Gly1109Cys) rs587778040
NM_000038.6(APC):c.3644G>A (p.Ser1215Asn) rs587778041
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) rs587778029
NM_000038.6(APC):c.5743A>G (p.Lys1915Glu) rs587778031
NM_000038.6(APC):c.5968A>T (p.Thr1990Ser) rs587778032
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) rs587778037
NM_000038.6(APC):c.8146G>C (p.Val2716Leu) rs587778044
NM_000038.6(APC):c.8467A>C (p.Thr2823Pro) rs587778034

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