List of variants reported as uncertain significance for aceruloplasminemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 235

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HGVS	dbSNP	gnomAD frequency
NM_000096.4(CP):c.*509A>C	rs13098532	0.00867
NM_000096.4(CP):c.2571C>T (p.Tyr857=)	rs151304828	0.00189
NM_000096.4(CP):c.*1081T>A	rs188137938	0.00174
NM_000096.4(CP):c.*40C>T	rs112764171	0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)	rs139633388	0.00162
NM_000096.3(CP):c.-183T>C	rs185578646	0.00099
NM_000096.4(CP):c.1811C>A (p.Pro604His)	rs188643164	0.00053
NM_000096.4(CP):c.2554+8C>T	rs749646388	0.00049
NM_000096.4(CP):c.2446G>A (p.Val816Ile)	rs139058165	0.00042
NM_000096.4(CP):c.788A>G (p.Asn263Ser)	rs150303869	0.00041
NM_000096.4(CP):c.1501A>C (p.Ser501Arg)	rs139756428	0.00037
NM_000096.4(CP):c.938C>T (p.Thr313Ile)	rs144401501	0.00037
NM_000096.4(CP):c.*373C>G	rs370247691	0.00029
NM_000096.4(CP):c.2565C>T (p.Leu855=)	rs781672409	0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)	rs145784949	0.00025
NM_000096.4(CP):c.2518C>G (p.Gln840Glu)	rs142139927	0.00025
NM_000096.4(CP):c.1104G>C (p.Gly368=)	rs142503847	0.00021
NM_000096.4(CP):c.1217C>A (p.Ala406Glu)	rs147034302	0.00019
NM_000096.4(CP):c.944A>G (p.Asn315Ser)	rs370682704	0.00017
NM_000096.4(CP):c.1191C>G (p.Asn397Lys)	rs146229133	0.00015
NM_000096.4(CP):c.151C>T (p.His51Tyr)	rs150681942	0.00015
NM_000096.3(CP):c.-165C>T	rs536533840	0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=)	rs201521886	0.00013
NM_000096.4(CP):c.*572A>G	rs561191589	0.00011
NM_000096.4(CP):c.1895C>T (p.Pro632Leu)	rs200706325	0.00011
NM_000096.4(CP):c.2926G>A (p.Val976Met)	rs192063766	0.00011
NM_000096.4(CP):c.3006C>T (p.Ser1002=)	rs199877380	0.00011
NM_000096.4(CP):c.782-3C>T	rs375191868	0.00011
NM_000096.4(CP):c.1357A>G (p.Ile453Val)	rs145762017	0.00010
NM_000096.4(CP):c.1927G>A (p.Val643Met)	rs143775161	0.00010
NM_000096.4(CP):c.929G>A (p.Arg310His)	rs202217551	0.00010
NM_000096.4(CP):c.2260G>A (p.Glu754Lys)	rs377373314	0.00009
NM_000096.4(CP):c.3021C>G (p.His1007Gln)	rs775322417	0.00009
NM_000096.4(CP):c.1265A>G (p.Lys422Arg)	rs200156117	0.00007
NM_000096.4(CP):c.2900G>C (p.Gly967Ala)	rs370673560	0.00007
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)	rs187293972	0.00007
NM_000096.3(CP):c.-199C>G	rs772691705	0.00006
NM_000096.4(CP):c.2681T>C (p.Ile894Thr)	rs148809294	0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn)	rs149217680	0.00006
NM_000096.4(CP):c.921G>T (p.Lys307Asn)	rs543777038	0.00006
NM_000096.4(CP):c.*912C>G	rs149920453	0.00005
NM_000096.4(CP):c.1131C>T (p.Ala377=)	rs150733154	0.00005
NM_000096.4(CP):c.1132G>A (p.Ala378Thr)	rs141270807	0.00005
NM_000096.4(CP):c.1472A>G (p.Tyr491Cys)	rs373531113	0.00005
NM_000096.4(CP):c.1408G>T (p.Ala470Ser)	rs781567080	0.00004
NM_000096.4(CP):c.1922C>T (p.Ser641Leu)	rs758412535	0.00004
NM_000096.4(CP):c.2662-14T>C	rs189155564	0.00004
NM_000096.4(CP):c.2827G>A (p.Glu943Lys)	rs571448440	0.00004
NM_000096.4(CP):c.1414C>A (p.Pro472Thr)	rs749923683	0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=)	rs760634973	0.00003
NM_000096.4(CP):c.260C>T (p.Pro87Leu)	rs200823208	0.00003
NM_000096.4(CP):c.92C>T (p.Thr31Met)	rs139978529	0.00003
NM_000096.4(CP):c.164A>G (p.Tyr55Cys)	rs756029950	0.00002
NM_000096.4(CP):c.1907T>C (p.Met636Thr)	rs776909143	0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His)	rs201599525	0.00002
NM_000096.4(CP):c.2005G>C (p.Gly669Arg)	rs555339346	0.00002
NM_000096.4(CP):c.2207T>A (p.Ile736Asn)	rs746839444	0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His)	rs200683433	0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=)	rs553883583	0.00002
NM_000096.4(CP):c.236C>T (p.Thr79Ile)	rs192728234	0.00002
NM_000096.4(CP):c.259C>T (p.Pro87Ser)	rs749061188	0.00002
NM_000096.4(CP):c.3185C>A (p.Thr1062Asn)	rs749381794	0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg)	rs750451693	0.00002
NM_000096.4(CP):c.652G>A (p.Val218Met)	rs768603982	0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=)	rs373073229	0.00002
NM_000096.4(CP):c.*343A>G	rs886058085	0.00001
NM_000096.4(CP):c.1037-3C>A	rs754289834	0.00001
NM_000096.4(CP):c.1039G>A (p.Gly347Ser)	rs761317252	0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg)	rs886058090	0.00001
NM_000096.4(CP):c.1277G>A (p.Arg426His)	rs181428197	0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu)	rs764238637	0.00001
NM_000096.4(CP):c.1355T>C (p.Val452Ala)	rs761433684	0.00001
NM_000096.4(CP):c.1379C>T (p.Thr460Ile)	rs370863732	0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=)	rs149790356	0.00001
NM_000096.4(CP):c.13A>G (p.Ile5Val)	rs766078094	0.00001
NM_000096.4(CP):c.1405G>A (p.Gly469Arg)	rs748447606	0.00001
NM_000096.4(CP):c.1426G>A (p.Glu476Lys)	rs1197002943	0.00001
NM_000096.4(CP):c.1435G>A (p.Gly479Arg)	rs773337495	0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu)	rs1391447500	0.00001
NM_000096.4(CP):c.1546A>G (p.Thr516Ala)	rs780668014	0.00001
NM_000096.4(CP):c.1682A>G (p.Lys561Arg)	rs1428887668	0.00001
NM_000096.4(CP):c.1713+3A>G	rs372361874	0.00001
NM_000096.4(CP):c.1819G>A (p.Val607Met)	rs1158598597	0.00001
NM_000096.4(CP):c.1865-5T>A	rs750574317	0.00001
NM_000096.4(CP):c.1868T>C (p.Met623Thr)	rs1328458846	0.00001
NM_000096.4(CP):c.188T>C (p.Ile63Thr)	rs759185877	0.00001
NM_000096.4(CP):c.1900C>A (p.Leu634Ile)	rs200864206	0.00001
NM_000096.4(CP):c.1954G>A (p.Glu652Lys)	rs141425435	0.00001
NM_000096.4(CP):c.2065C>T (p.Pro689Ser)	rs200353789	0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser)	rs886058087	0.00001
NM_000096.4(CP):c.2224G>C (p.Glu742Gln)	rs527915587	0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn)	rs773420516	0.00001
NM_000096.4(CP):c.22A>G (p.Ile8Val)	rs770665382	0.00001
NM_000096.4(CP):c.2353C>T (p.Arg785Trp)	rs775583038	0.00001
NM_000096.4(CP):c.2402A>G (p.Glu801Gly)	rs984317340	0.00001
NM_000096.4(CP):c.2434C>A (p.Leu812Ile)	rs770844193	0.00001
NM_000096.4(CP):c.2491C>T (p.Pro831Ser)	rs779811076	0.00001
NM_000096.4(CP):c.2500A>G (p.Ile834Val)	rs1377096899	0.00001
NM_000096.4(CP):c.2593T>C (p.Ser865Pro)	rs758596793	0.00001
NM_000096.4(CP):c.2669A>G (p.Tyr890Cys)	rs576931228	0.00001
NM_000096.4(CP):c.2677T>G (p.Leu893Val)	rs769138783	0.00001
NM_000096.4(CP):c.2687C>T (p.Pro896Leu)	rs1415343557	0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=)	rs17847022	0.00001
NM_000096.4(CP):c.2816C>G (p.Ser939Cys)	rs781046060	0.00001
NM_000096.4(CP):c.3101G>C (p.Gly1034Ala)	rs1234930172	0.00001
NM_000096.4(CP):c.338C>T (p.Ala113Val)	rs1378270514	0.00001
NM_000096.4(CP):c.416C>T (p.Thr139Ile)	rs749950432	0.00001
NM_000096.4(CP):c.41G>A (p.Ser14Asn)	rs892697970	0.00001
NM_000096.4(CP):c.484A>T (p.Thr162Ser)	rs1428783802	0.00001
NM_000096.4(CP):c.548T>C (p.Ile183Thr)	rs386134123	0.00001
NM_000096.4(CP):c.553G>A (p.Ala185Thr)	rs960307294	0.00001
NM_000096.4(CP):c.566T>C (p.Ile189Thr)	rs1263674373	0.00001
NM_000096.4(CP):c.56C>T (p.Ala19Val)	rs532618448	0.00001
NM_000096.4(CP):c.704A>G (p.Asn235Ser)	rs1336508383	0.00001
NM_000096.4(CP):c.791G>C (p.Gly264Ala)	rs765086883	0.00001
NM_000096.4(CP):c.811C>T (p.Pro271Ser)	rs774692355	0.00001
NM_000096.4(CP):c.901G>A (p.Gly301Arg)	rs753356388	0.00001
NC_000003.11:g.(?_148847511)_(148906009_?)dup
NC_000003.12:g.(?_149173694)_(149182153_?)del
NM_000096.4(CP):c.*1007T>A	rs36120450
NM_000096.4(CP):c.*373C>T	rs370247691
NM_000096.4(CP):c.*536G>C	rs1725167347
NM_000096.4(CP):c.*583T>C	rs886058084
NM_000096.4(CP):c.1019A>G (p.Asn340Ser)
NM_000096.4(CP):c.1036+15C>T
NM_000096.4(CP):c.1079C>A (p.Ser360Tyr)
NM_000096.4(CP):c.1081T>C (p.Ser361Pro)
NM_000096.4(CP):c.1100G>T (p.Arg367Leu)	rs199930098
NM_000096.4(CP):c.1169T>C (p.Ile390Thr)
NM_000096.4(CP):c.1175T>A (p.Ile392Asn)	rs1481132976
NM_000096.4(CP):c.117T>A (p.His39Gln)
NM_000096.4(CP):c.1199C>A (p.Ala400Glu)	rs1446212124
NM_000096.4(CP):c.119G>C (p.Gly40Ala)	rs748730192
NM_000096.4(CP):c.1201C>T (p.Pro401Ser)
NM_000096.4(CP):c.1208+6T>A	rs2108287218
NM_000096.4(CP):c.1208+6T>C	rs2108287218
NM_000096.4(CP):c.1312G>C (p.Glu438Gln)	rs2108277804
NM_000096.4(CP):c.1313A>G (p.Glu438Gly)	rs1553761979
NM_000096.4(CP):c.1324G>A (p.Glu442Lys)
NM_000096.4(CP):c.1333C>T (p.His445Tyr)
NM_000096.4(CP):c.1337T>C (p.Leu446Pro)	rs1727368255
NM_000096.4(CP):c.1401C>G (p.Asn467Lys)
NM_000096.4(CP):c.1409C>T (p.Ala470Val)	rs1460879036
NM_000096.4(CP):c.1448A>G (p.Asn483Ser)	rs781513940
NM_000096.4(CP):c.147-11T>G
NM_000096.4(CP):c.147-9T>A
NM_000096.4(CP):c.1526T>C (p.Val509Ala)
NM_000096.4(CP):c.1648T>A (p.Phe550Ile)
NM_000096.4(CP):c.1726A>G (p.Lys576Glu)	rs938967361
NM_000096.4(CP):c.1748C>T (p.Thr583Ile)
NM_000096.4(CP):c.1774C>G (p.Leu592Val)	rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe)	rs200226362
NM_000096.4(CP):c.181G>T (p.Asp61Tyr)
NM_000096.4(CP):c.1826A>C (p.Lys609Thr)	rs2108243871
NM_000096.4(CP):c.1837G>A (p.Asp613Asn)	rs750202621
NM_000096.4(CP):c.1864+1G>C	rs1559942361
NM_000096.4(CP):c.1908G>A (p.Met636Ile)	rs2108240139
NM_000096.4(CP):c.1915G>A (p.Gly639Arg)
NM_000096.4(CP):c.1937T>C (p.Leu646Ser)
NM_000096.4(CP):c.1939T>C (p.Phe647Leu)	rs755977561
NM_000096.4(CP):c.1958_1963del (p.Ala653_Asp654del)
NM_000096.4(CP):c.1960G>T (p.Asp654Tyr)	rs755243937
NM_000096.4(CP):c.1973T>C (p.Ile658Thr)	rs1726190460
NM_000096.4(CP):c.1991C>T (p.Thr664Ile)
NM_000096.4(CP):c.19G>C (p.Gly7Arg)
NM_000096.4(CP):c.1del (p.Met1*)	rs750317184
NM_000096.4(CP):c.2012G>A (p.Arg671Gln)
NM_000096.4(CP):c.2027A>G (p.Asn676Ser)	rs2108239351
NM_000096.4(CP):c.2046T>G (p.Ser682Arg)	rs751013436
NM_000096.4(CP):c.2051C>T (p.Thr684Met)
NM_000096.4(CP):c.2056C>T (p.His686Tyr)
NM_000096.4(CP):c.2059A>G (p.Met687Val)	rs1726183089
NM_000096.4(CP):c.209C>T (p.Ala70Val)	rs2108302390
NM_000096.4(CP):c.2189G>T (p.Gly730Val)	rs1726090334
NM_000096.4(CP):c.2215G>C (p.Val739Leu)
NM_000096.4(CP):c.2227T>G (p.Trp743Gly)
NM_000096.4(CP):c.2268T>C (p.His756=)	rs765341479
NM_000096.4(CP):c.2286-14dup	rs561633350
NM_000096.4(CP):c.233A>G (p.Glu78Gly)	rs1451235847
NM_000096.4(CP):c.2342A>C (p.Lys781Thr)
NM_000096.4(CP):c.2347G>A (p.Val783Met)
NM_000096.4(CP):c.2354G>A (p.Arg785Gln)	rs1257682995
NM_000096.4(CP):c.2377C>T (p.Arg793Cys)
NM_000096.4(CP):c.2395A>C (p.Lys799Gln)
NM_000096.4(CP):c.2401GAA[2] (p.Glu803del)	rs1482869210
NM_000096.4(CP):c.2407G>C (p.Glu803Gln)
NM_000096.4(CP):c.2482G>A (p.Ala828Thr)	rs1161226577
NM_000096.4(CP):c.2496C>T (p.Tyr832=)	rs1199272207
NM_000096.4(CP):c.250A>G (p.Ile84Val)
NM_000096.4(CP):c.2554+15G>A	rs751719558
NM_000096.4(CP):c.2557G>A (p.Glu853Lys)	rs886058086
NM_000096.4(CP):c.2575T>C (p.Trp859Arg)	rs1725651811
NM_000096.4(CP):c.2594C>G (p.Ser865Cys)	rs1410133815
NM_000096.4(CP):c.2617G>A (p.Ala873Thr)	rs1472131747
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr)	rs570400135
NM_000096.4(CP):c.2626C>T (p.Pro876Ser)
NM_000096.4(CP):c.2636A>T (p.Tyr879Phe)
NM_000096.4(CP):c.2650G>C (p.Asp884His)	rs2108219609
NM_000096.4(CP):c.2662-3C>T
NM_000096.4(CP):c.2698T>C (p.Cys900Arg)
NM_000096.4(CP):c.2732G>T (p.Arg911Ile)
NM_000096.4(CP):c.2741T>A (p.Leu914Gln)
NM_000096.4(CP):c.2741T>G (p.Leu914Arg)
NM_000096.4(CP):c.2762T>C (p.Leu921Pro)	rs1725565373
NM_000096.4(CP):c.277T>A (p.Leu93Ile)
NM_000096.4(CP):c.2782T>A (p.Ser928Thr)	rs2108216572
NM_000096.4(CP):c.2831A>G (p.Lys944Arg)
NM_000096.4(CP):c.2837A>G (p.Asn946Ser)	rs1185823259
NM_000096.4(CP):c.2860G>A (p.Glu954Lys)
NM_000096.4(CP):c.2886T>G (p.Asn962Lys)
NM_000096.4(CP):c.290_292del (p.Ile97del)	rs2108302022
NM_000096.4(CP):c.2947T>C (p.Tyr983His)
NM_000096.4(CP):c.2978T>C (p.Leu993Ser)
NM_000096.4(CP):c.3028G>A (p.Val1010Ile)
NM_000096.4(CP):c.3118T>C (p.Cys1040Arg)
NM_000096.4(CP):c.389A>G (p.His130Arg)	rs747953840
NM_000096.4(CP):c.393G>A (p.Glu131=)	rs754943824
NM_000096.4(CP):c.394+6T>C
NM_000096.4(CP):c.407C>T (p.Pro136Leu)	rs878959339
NM_000096.4(CP):c.438T>A (p.Asp146Glu)
NM_000096.4(CP):c.461A>C (p.Gln154Pro)
NM_000096.4(CP):c.508G>A (p.Gly170Arg)	rs886058089
NM_000096.4(CP):c.597C>G (p.Ile199Met)	rs1728013449
NM_000096.4(CP):c.678A>C (p.Glu226Asp)
NM_000096.4(CP):c.701A>G (p.Asp234Gly)	rs769311718
NM_000096.4(CP):c.732G>T (p.Glu244Asp)	rs917446548
NM_000096.4(CP):c.809T>C (p.Leu270Pro)	rs760359106
NM_000096.4(CP):c.80G>C (p.Gly27Ala)
NM_000096.4(CP):c.82A>T (p.Ile28Phe)	rs386134121
NM_000096.4(CP):c.850T>C (p.Tyr284His)	rs886058088
NM_000096.4(CP):c.886G>A (p.Ala296Thr)	rs765169503
NM_000096.4(CP):c.88G>C (p.Glu30Gln)	rs1728820847
NM_000096.4(CP):c.921G>A (p.Lys307=)	rs543777038
NM_000096.4(CP):c.952C>T (p.Pro318Ser)
NM_000096.4(CP):c.991C>A (p.Pro331Thr)	rs376348284

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