ClinVar Miner

List of variants in gene CP reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
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.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.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.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.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.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_000003.12:g.(?_149173694)_(149182153_?)del
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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