ClinVar Miner

List of variants reported as likely benign for carnitine palmitoyltransferase II deficiency

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 414
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000098.2(CPT2):c.-477C>T rs7545725 0.00978
NM_017887.3(CZIB):c.*457C>A rs14829 0.00852
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_000098.3(CPT2):c.932A>G (p.Asn311Ser) rs142790440 0.00143
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln) rs147276580 0.00085
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00067
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000098.3(CPT2):c.1776G>A (p.Leu592=) rs141146189 0.00023
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000098.3(CPT2):c.399A>G (p.Pro133=) rs375573986 0.00019
NM_000098.3(CPT2):c.218A>G (p.Asn73Ser) rs146159244 0.00016
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.365C>T (p.Ser122Phe) rs192275019 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000098.3(CPT2):c.1428G>A (p.Leu476=) rs149557870 0.00011
NM_000098.3(CPT2):c.1518C>T (p.Ser506=) rs140798841 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.1251C>T (p.Phe417=) rs576822710 0.00010
NM_000098.3(CPT2):c.1545C>T (p.Ala515=) rs201663642 0.00010
NM_000098.3(CPT2):c.1738G>A (p.Gly580Arg) rs569609298 0.00009
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000098.3(CPT2):c.1497T>C (p.Thr499=) rs766629203 0.00006
NM_000098.3(CPT2):c.1674T>G (p.Ala558=) rs141814677 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.201A>C (p.Ala67=) rs747516495 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.1839G>T (p.Gly613=) rs755060321 0.00005
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000098.3(CPT2):c.387G>C (p.Leu129=) rs777514571 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000098.3(CPT2):c.72C>T (p.Pro24=) rs926538202 0.00004
NM_000098.3(CPT2):c.801G>A (p.Ser267=) rs762195160 0.00004
NM_000098.3(CPT2):c.1032T>C (p.His344=) rs747352901 0.00003
NM_000098.3(CPT2):c.103C>T (p.Leu35=) rs2929073 0.00003
NM_000098.3(CPT2):c.333C>T (p.Tyr111=) rs372313619 0.00003
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000098.3(CPT2):c.870C>T (p.Tyr290=) rs202145705 0.00003
NM_000098.3(CPT2):c.930C>T (p.Gly310=) rs371971257 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000098.3(CPT2):c.1047C>T (p.Asn349=) rs148512862 0.00002
NM_000098.3(CPT2):c.1263T>C (p.Asp421=) rs749714778 0.00002
NM_000098.3(CPT2):c.1392C>T (p.Asp464=) rs201681645 0.00002
NM_000098.3(CPT2):c.1878T>C (p.Ser626=) rs761631943 0.00002
NM_000098.3(CPT2):c.340+10C>G rs781682674 0.00002
NM_000098.3(CPT2):c.627G>A (p.Ala209=) rs774374525 0.00002
NM_000098.3(CPT2):c.873G>A (p.Leu291=) rs1459404490 0.00002
NM_000098.3(CPT2):c.960G>A (p.Ser320=) rs569273347 0.00002
NM_000098.3(CPT2):c.975C>G (p.Leu325=) rs757247552 0.00002
NM_000098.3(CPT2):c.1005T>C (p.Leu335=) rs554776730 0.00001
NM_000098.3(CPT2):c.108G>A (p.Gln36=) rs773734918 0.00001
NM_000098.3(CPT2):c.1116C>T (p.His372=) rs761347926 0.00001
NM_000098.3(CPT2):c.1143C>G (p.Leu381=) rs369847007 0.00001
NM_000098.3(CPT2):c.1188C>T (p.Ala396=) rs767826599 0.00001
NM_000098.3(CPT2):c.1215C>T (p.Thr405=) rs1208165579 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1236G>A (p.Val412=) rs544400632 0.00001
NM_000098.3(CPT2):c.1255C>T (p.Leu419=) rs767852112 0.00001
NM_000098.3(CPT2):c.1284A>T (p.Thr428=) rs187044944 0.00001
NM_000098.3(CPT2):c.1290T>C (p.Ala430=) rs776488578 0.00001
NM_000098.3(CPT2):c.1329T>C (p.Ile443=) rs767699548 0.00001
NM_000098.3(CPT2):c.135C>T (p.Tyr45=) rs1645327989 0.00001
NM_000098.3(CPT2):c.1389T>C (p.Pro463=) rs1160807210 0.00001
NM_000098.3(CPT2):c.1458C>T (p.Tyr486=) rs201241649 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.1488C>T (p.His496=) rs139321501 0.00001
NM_000098.3(CPT2):c.152+7C>T rs1442160283 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.1557G>A (p.Glu519=) rs1293579592 0.00001
NM_000098.3(CPT2):c.159T>C (p.Pro53=) rs1319637411 0.00001
NM_000098.3(CPT2):c.1646-13T>C rs547147723 0.00001
NM_000098.3(CPT2):c.1723C>T (p.Leu575=) rs1475193715 0.00001
NM_000098.3(CPT2):c.1740G>A (p.Gly580=) rs371443614 0.00001
NM_000098.3(CPT2):c.1751A>G (p.His584Arg) rs750604350 0.00001
NM_000098.3(CPT2):c.1755T>C (p.Asn585=) rs1645442430 0.00001
NM_000098.3(CPT2):c.1779C>T (p.Ser593=) rs748484701 0.00001
NM_000098.3(CPT2):c.1815G>A (p.Val605=) rs761604642 0.00001
NM_000098.3(CPT2):c.1836T>C (p.Val612=) rs1248709957 0.00001
NM_000098.3(CPT2):c.1851T>C (p.His617=) rs540322467 0.00001
NM_000098.3(CPT2):c.1857C>T (p.Asn619=) rs769535056 0.00001
NM_000098.3(CPT2):c.222T>C (p.Asp74=) rs1360477206 0.00001
NM_000098.3(CPT2):c.234-7G>A rs1260976720 0.00001
NM_000098.3(CPT2):c.249T>C (p.Phe83=) rs767339394 0.00001
NM_000098.3(CPT2):c.267T>C (p.Asn89=) rs768408574 0.00001
NM_000098.3(CPT2):c.270G>A (p.Gly90=) rs1436061126 0.00001
NM_000098.3(CPT2):c.324T>C (p.His108=) rs764943289 0.00001
NM_000098.3(CPT2):c.33C>T (p.Pro11=) rs1173716908 0.00001
NM_000098.3(CPT2):c.340+7A>G rs757312595 0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=) rs1350688021 0.00001
NM_000098.3(CPT2):c.372A>G (p.Arg124=) rs200301403 0.00001
NM_000098.3(CPT2):c.378C>T (p.Ser126=) rs780743357 0.00001
NM_000098.3(CPT2):c.393T>C (p.Phe131=) rs569391696 0.00001
NM_000098.3(CPT2):c.39C>A (p.Gly13=) rs1279681106 0.00001
NM_000098.3(CPT2):c.42C>T (p.Pro14=) rs570576290 0.00001
NM_000098.3(CPT2):c.468T>C (p.Thr156=) rs138938770 0.00001
NM_000098.3(CPT2):c.504T>C (p.Ala168=) rs1178731855 0.00001
NM_000098.3(CPT2):c.561C>T (p.Thr187=) rs767592132 0.00001
NM_000098.3(CPT2):c.634C>T (p.Leu212=) rs747845465 0.00001
NM_000098.3(CPT2):c.636G>T (p.Leu212=) rs973697337 0.00001
NM_000098.3(CPT2):c.69G>T (p.Arg23=) rs1353591461 0.00001
NM_000098.3(CPT2):c.759C>T (p.Ile253=) rs746853000 0.00001
NM_000098.3(CPT2):c.813A>G (p.Ala271=) rs561154406 0.00001
NM_000098.3(CPT2):c.843C>T (p.Ser281=) rs190459228 0.00001
NM_000098.3(CPT2):c.849C>T (p.Ala283=) rs1361146199 0.00001
NM_000098.3(CPT2):c.876C>T (p.Thr292=) rs1179793805 0.00001
NM_000098.3(CPT2):c.936G>A (p.Glu312=) rs750820184 0.00001
NM_000098.3(CPT2):c.93C>T (p.Pro31=) rs1056264696 0.00001
NM_000098.3(CPT2):c.957C>T (p.Asp319=) rs1645417627 0.00001
NM_000098.3(CPT2):c.963A>C (p.Ala321=) rs1438452698 0.00001
NM_000098.2(CPT2):c.-242G>A rs548768045
NM_000098.3(CPT2):c.1008C>T (p.Val336=)
NM_000098.3(CPT2):c.1011C>T (p.His337=) rs1024639640
NM_000098.3(CPT2):c.1014G>A (p.Leu338=) rs2100273298
NM_000098.3(CPT2):c.1020C>T (p.His340=) rs866307911
NM_000098.3(CPT2):c.1029G>A (p.Leu343=)
NM_000098.3(CPT2):c.102C>T (p.Tyr34=) rs1317793581
NM_000098.3(CPT2):c.1035G>A (p.Gly345=)
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.1059T>C (p.Asp353=)
NM_000098.3(CPT2):c.1071C>T (p.Asn357=)
NM_000098.3(CPT2):c.1074C>T (p.Leu358=)
NM_000098.3(CPT2):c.1077T>C (p.Ile359=) rs2100273464
NM_000098.3(CPT2):c.1080C>T (p.Ile360=) rs749833236
NM_000098.3(CPT2):c.1089T>C (p.Asp363=)
NM_000098.3(CPT2):c.1092C>T (p.Gly364=)
NM_000098.3(CPT2):c.1101C>T (p.Ala367=)
NM_000098.3(CPT2):c.1104C>G (p.Val368=)
NM_000098.3(CPT2):c.1119T>C (p.Ser373=)
NM_000098.3(CPT2):c.111C>G (p.Arg37=) rs1557712092
NM_000098.3(CPT2):c.1128T>C (p.Asp376=)
NM_000098.3(CPT2):c.1134G>T (p.Val378=)
NM_000098.3(CPT2):c.1137A>G (p.Ala379=) rs760514258
NM_000098.3(CPT2):c.1170C>T (p.Asp390=) rs2100273724
NM_000098.3(CPT2):c.1188C>G (p.Ala396=)
NM_000098.3(CPT2):c.1191C>T (p.Val397=) rs1321099565
NM_000098.3(CPT2):c.1200G>A (p.Gln400=) rs2100273793
NM_000098.3(CPT2):c.1203C>T (p.Ser401=) rs1179659900
NM_000098.3(CPT2):c.1206G>A (p.Gln402=) rs2100273808
NM_000098.3(CPT2):c.1212T>A (p.Ala404=)
NM_000098.3(CPT2):c.1227T>C (p.Thr409=) rs1279325407
NM_000098.3(CPT2):c.1234G>T (p.Val412Leu) rs575447822
NM_000098.3(CPT2):c.123C>A (p.Pro41=) rs898278662
NM_000098.3(CPT2):c.1242A>G (p.Lys414=) rs763073192
NM_000098.3(CPT2):c.1245C>G (p.Leu415=)
NM_000098.3(CPT2):c.1248C>T (p.Asn416=)
NM_000098.3(CPT2):c.1257G>A (p.Leu419=) rs2100273948
NM_000098.3(CPT2):c.1269A>G (p.Leu423=)
NM_000098.3(CPT2):c.126C>T (p.Thr42=)
NM_000098.3(CPT2):c.1272G>A (p.Lys424=)
NM_000098.3(CPT2):c.1278C>G (p.Gly426=)
NM_000098.3(CPT2):c.1278C>T (p.Gly426=)
NM_000098.3(CPT2):c.1284A>G (p.Thr428=)
NM_000098.3(CPT2):c.1299G>A (p.Lys433=)
NM_000098.3(CPT2):c.1323C>T (p.Leu441=)
NM_000098.3(CPT2):c.1326T>A (p.Thr442=)
NM_000098.3(CPT2):c.1326T>C (p.Thr442=) rs1572385629
NM_000098.3(CPT2):c.1341G>A (p.Gln447=) rs767030994
NM_000098.3(CPT2):c.1350A>G (p.Arg450=)
NM_000098.3(CPT2):c.1353A>C (p.Gly451=)
NM_000098.3(CPT2):c.1362A>G (p.Glu454=)
NM_000098.3(CPT2):c.1368G>A (p.Leu456=)
NM_000098.3(CPT2):c.1368G>T (p.Leu456=) rs746683786
NM_000098.3(CPT2):c.1380G>A (p.Lys460=)
NM_000098.3(CPT2):c.1381C>T (p.Leu461=)
NM_000098.3(CPT2):c.1383G>A (p.Leu461=) rs779999942
NM_000098.3(CPT2):c.1383G>T (p.Leu461=)
NM_000098.3(CPT2):c.1386C>T (p.Ser462=)
NM_000098.3(CPT2):c.1401C>G (p.Ala467=) rs1645423595
NM_000098.3(CPT2):c.1401C>T (p.Ala467=)
NM_000098.3(CPT2):c.1416G>A (p.Gln472=)
NM_000098.3(CPT2):c.1434G>A (p.Gln478=)
NM_000098.3(CPT2):c.1437C>T (p.Tyr479=) rs370157946
NM_000098.3(CPT2):c.144C>T (p.Ser48=)
NM_000098.3(CPT2):c.1464C>A (p.Ser488=)
NM_000098.3(CPT2):c.1470C>T (p.Ser490=) rs2100274512
NM_000098.3(CPT2):c.147G>A (p.Leu49=) rs1645328186
NM_000098.3(CPT2):c.1485G>A (p.Lys495=)
NM_000098.3(CPT2):c.1491C>T (p.Gly497=)
NM_000098.3(CPT2):c.1497T>G (p.Thr499=) rs766629203
NM_000098.3(CPT2):c.1503C>G (p.Thr501=) rs2100274612
NM_000098.3(CPT2):c.1506C>T (p.Ile502=) rs1264962948
NM_000098.3(CPT2):c.1509C>T (p.Arg503=) rs1572385867
NM_000098.3(CPT2):c.1512G>A (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.1515C>T (p.Ala505=) rs2100274663
NM_000098.3(CPT2):c.152+12C>T
NM_000098.3(CPT2):c.152+13T>C rs2100255165
NM_000098.3(CPT2):c.152+15C>T
NM_000098.3(CPT2):c.1521C>A (p.Val507=)
NM_000098.3(CPT2):c.1524T>C (p.Tyr508=)
NM_000098.3(CPT2):c.1527A>G (p.Thr509=)
NM_000098.3(CPT2):c.153-11T>C
NM_000098.3(CPT2):c.153-4C>G rs2100259763
NM_000098.3(CPT2):c.153-5C>T
NM_000098.3(CPT2):c.1531A>C (p.Arg511=) rs1388956797
NM_000098.3(CPT2):c.1548T>C (p.Phe516=) rs2100274748
NM_000098.3(CPT2):c.1566G>A (p.Arg522=)
NM_000098.3(CPT2):c.1581G>A (p.Glu527=) rs2100274829
NM_000098.3(CPT2):c.1590G>A (p.Gln530=)
NM_000098.3(CPT2):c.15G>A (p.Leu5=)
NM_000098.3(CPT2):c.15G>C (p.Leu5=) rs1443908294
NM_000098.3(CPT2):c.1611G>A (p.Lys537=)
NM_000098.3(CPT2):c.1614C>T (p.Tyr538=)
NM_000098.3(CPT2):c.1624C>T (p.Leu542=)
NM_000098.3(CPT2):c.1641A>T (p.Ala547=) rs1572386023
NM_000098.3(CPT2):c.1645+10G>A rs2100274966
NM_000098.3(CPT2):c.1645+12G>T
NM_000098.3(CPT2):c.1645+14G>T rs2100274977
NM_000098.3(CPT2):c.1645+20C>T rs574640455
NM_000098.3(CPT2):c.1645+6dup
NM_000098.3(CPT2):c.1646-14T>C
NM_000098.3(CPT2):c.1646-4A>G
NM_000098.3(CPT2):c.1646-7C>A
NM_000098.3(CPT2):c.1646-9T>C
NM_000098.3(CPT2):c.1646-9T>G rs375793186
NM_000098.3(CPT2):c.1650G>A (p.Gln550=) rs2100278235
NM_000098.3(CPT2):c.165C>A (p.Pro55=)
NM_000098.3(CPT2):c.1662A>G (p.Arg554=)
NM_000098.3(CPT2):c.1671T>C (p.Phe557=)
NM_000098.3(CPT2):c.1677G>A (p.Leu559=) rs2100278311
NM_000098.3(CPT2):c.1701G>A (p.Gly567=)
NM_000098.3(CPT2):c.1713T>C (p.Pro571=) rs1232941559
NM_000098.3(CPT2):c.1722C>T (p.Tyr574=)
NM_000098.3(CPT2):c.1749C>T (p.Asn583=)
NM_000098.3(CPT2):c.174A>G (p.Glu58=)
NM_000098.3(CPT2):c.1773A>T (p.Thr591=)
NM_000098.3(CPT2):c.177C>T (p.Asp59=) rs755209043
NM_000098.3(CPT2):c.1788A>C (p.Ala596=)
NM_000098.3(CPT2):c.1791G>A (p.Val597=) rs759101149
NM_000098.3(CPT2):c.1797T>C (p.Leu599=) rs1198321504
NM_000098.3(CPT2):c.1800G>A (p.Gly600=) rs762584123
NM_000098.3(CPT2):c.1800G>C (p.Gly600=)
NM_000098.3(CPT2):c.1800G>T (p.Gly600=)
NM_000098.3(CPT2):c.180C>T (p.Thr60=)
NM_000098.3(CPT2):c.1812T>C (p.Pro604=) rs1572387377
NM_000098.3(CPT2):c.1830T>C (p.Phe610=) rs2100278821
NM_000098.3(CPT2):c.1839G>C (p.Gly613=) rs755060321
NM_000098.3(CPT2):c.1842T>C (p.Tyr614=) rs748596204
NM_000098.3(CPT2):c.1854C>T (p.Asp618=) rs1572387455
NM_000098.3(CPT2):c.1869C>T (p.Cys623=)
NM_000098.3(CPT2):c.1872T>C (p.Asn624=) rs759970188
NM_000098.3(CPT2):c.1878T>A (p.Ser626=) rs761631943
NM_000098.3(CPT2):c.1878T>G (p.Ser626=)
NM_000098.3(CPT2):c.1884C>T (p.Tyr628=) rs901767832
NM_000098.3(CPT2):c.1896T>C (p.Asn632=) rs2100279059
NM_000098.3(CPT2):c.1902G>A (p.Arg634=)
NM_000098.3(CPT2):c.1902G>C (p.Arg634=)
NM_000098.3(CPT2):c.1905G>A (p.Glu635=)
NM_000098.3(CPT2):c.1938_1939inv (p.Met647Val)
NM_000098.3(CPT2):c.1944T>C (p.Phe648=)
NM_000098.3(CPT2):c.1953A>G (p.Leu651=) rs1645445614
NM_000098.3(CPT2):c.1965C>T (p.Ser655=) rs2100279335
NM_000098.3(CPT2):c.1977A>G (p.Ter659=) rs1203658716
NM_000098.3(CPT2):c.204G>A (p.Gln68=) rs777038982
NM_000098.3(CPT2):c.213C>G (p.Leu71=)
NM_000098.3(CPT2):c.21G>T (p.Leu7=)
NM_000098.3(CPT2):c.233+13A>G
NM_000098.3(CPT2):c.233+15C>A
NM_000098.3(CPT2):c.233+17T>C
NM_000098.3(CPT2):c.233+18T>G
NM_000098.3(CPT2):c.233+20G>A
NM_000098.3(CPT2):c.233+7A>G
NM_000098.3(CPT2):c.233+9T>C
NM_000098.3(CPT2):c.234-13T>A
NM_000098.3(CPT2):c.234-16T>G
NM_000098.3(CPT2):c.234-21_234-17del
NM_000098.3(CPT2):c.234-6T>C
NM_000098.3(CPT2):c.234-7G>C rs1260976720
NM_000098.3(CPT2):c.240A>T (p.Thr80=)
NM_000098.3(CPT2):c.246A>G (p.Gln82=) rs761554630
NM_000098.3(CPT2):c.283C>T (p.Leu95=) rs2100261844
NM_000098.3(CPT2):c.285G>T (p.Leu95=)
NM_000098.3(CPT2):c.297G>C (p.Leu99=)
NM_000098.3(CPT2):c.33C>G (p.Pro11=) rs1173716908
NM_000098.3(CPT2):c.340+16dup
NM_000098.3(CPT2):c.340+17G>A
NM_000098.3(CPT2):c.340+18T>A rs1553169114
NM_000098.3(CPT2):c.340+18T>C rs1553169114
NM_000098.3(CPT2):c.340+20G>A rs369737473
NM_000098.3(CPT2):c.340+20G>T rs369737473
NM_000098.3(CPT2):c.340+8G>A rs2100261977
NM_000098.3(CPT2):c.340+9G>C rs1397812019
NM_000098.3(CPT2):c.340+9G>T
NM_000098.3(CPT2):c.341-17T>C
NM_000098.3(CPT2):c.341-4T>G rs2100271534
NM_000098.3(CPT2):c.341-8T>A rs2100271523
NM_000098.3(CPT2):c.341-8T>C
NM_000098.3(CPT2):c.341-9A>C rs759390063
NM_000098.3(CPT2):c.341-9del rs2100271518
NM_000098.3(CPT2):c.345C>A (p.Pro115=)
NM_000098.3(CPT2):c.345C>G (p.Pro115=)
NM_000098.3(CPT2):c.354T>C (p.Asp118=) rs2100271574
NM_000098.3(CPT2):c.363A>G (p.Leu121=)
NM_000098.3(CPT2):c.366T>C (p.Ser122=)
NM_000098.3(CPT2):c.372A>C (p.Arg124=) rs200301403
NM_000098.3(CPT2):c.378C>A (p.Ser126=) rs780743357
NM_000098.3(CPT2):c.399A>T (p.Pro133=) rs375573986
NM_000098.3(CPT2):c.42C>G (p.Pro14=) rs570576290
NM_000098.3(CPT2):c.432G>A (p.Glu144=)
NM_000098.3(CPT2):c.441C>T (p.Asp147=) rs2100271790
NM_000098.3(CPT2):c.444G>A (p.Gln148=)
NM_000098.3(CPT2):c.447C>T (p.Leu149=)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.451C>A (p.Arg151=) rs200080591
NM_000098.3(CPT2):c.453G>A (p.Arg151=) rs2100271828
NM_000098.3(CPT2):c.45G>C (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.468T>G (p.Thr156=)
NM_000098.3(CPT2):c.474T>C (p.Ser158=)
NM_000098.3(CPT2):c.486T>C (p.Phe162=)
NM_000098.3(CPT2):c.487C>T (p.Leu163=)
NM_000098.3(CPT2):c.495A>G (p.Thr165=)
NM_000098.3(CPT2):c.495A>T (p.Thr165=) rs1057523519
NM_000098.3(CPT2):c.507C>G (p.Gly169=) rs769316736
NM_000098.3(CPT2):c.519A>G (p.Pro173=)
NM_000098.3(CPT2):c.525G>A (p.Val175=)
NM_000098.3(CPT2):c.531C>T (p.His177=) rs1446192074
NM_000098.3(CPT2):c.532T>C (p.Leu178=)
NM_000098.3(CPT2):c.537C>T (p.Asn179=) rs1378193193
NM_000098.3(CPT2):c.54G>A (p.Pro18=)
NM_000098.3(CPT2):c.54G>C (p.Pro18=)
NM_000098.3(CPT2):c.555T>C (p.Thr185=) rs2100272046
NM_000098.3(CPT2):c.558C>T (p.Ile186=) rs1044393692
NM_000098.3(CPT2):c.564C>T (p.Phe188=)
NM_000098.3(CPT2):c.573C>T (p.Leu191=) rs2100272098
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.57A>G (p.Gly19=)
NM_000098.3(CPT2):c.588T>G (p.Pro196=) rs140853350
NM_000098.3(CPT2):c.594T>C (p.Ser198=)
NM_000098.3(CPT2):c.597G>A (p.Leu199=) rs2100272173
NM_000098.3(CPT2):c.600C>T (p.Ser200=)
NM_000098.3(CPT2):c.606T>C (p.Tyr202=) rs755830520
NM_000098.3(CPT2):c.60C>T (p.Ala20=) rs2100254803
NM_000098.3(CPT2):c.612C>T (p.Ala204=) rs1572384875
NM_000098.3(CPT2):c.624T>C (p.Asn208=) rs748844820
NM_000098.3(CPT2):c.633C>A (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.633C>T (p.Pro211=) rs201622710
NM_000098.3(CPT2):c.657G>T (p.Arg219=) rs773236568
NM_000098.3(CPT2):c.66T>C (p.Ser22=) rs2100254831
NM_000098.3(CPT2):c.672T>C (p.Thr224=)
NM_000098.3(CPT2):c.676T>C (p.Leu226=)
NM_000098.3(CPT2):c.681C>T (p.Pro227=)
NM_000098.3(CPT2):c.690T>C (p.Ser230=) rs2100272461
NM_000098.3(CPT2):c.693G>A (p.Arg231=)
NM_000098.3(CPT2):c.69G>A (p.Arg23=)
NM_000098.3(CPT2):c.6G>T (p.Val2=)
NM_000098.3(CPT2):c.705C>T (p.Phe235=) rs1156707548
NM_000098.3(CPT2):c.711T>C (p.Asp237=)
NM_000098.3(CPT2):c.714C>T (p.Asp238=)
NM_000098.3(CPT2):c.723A>G (p.Arg241=)
NM_000098.3(CPT2):c.726C>T (p.His242=) rs1389247990
NM_000098.3(CPT2):c.736C>T (p.Leu246=) rs2100272590
NM_000098.3(CPT2):c.75C>G (p.Leu25=)
NM_000098.3(CPT2):c.768C>T (p.Val256=)
NM_000098.3(CPT2):c.769C>T (p.Leu257=)
NM_000098.3(CPT2):c.771G>T (p.Leu257=)
NM_000098.3(CPT2):c.777A>G (p.Gln259=)
NM_000098.3(CPT2):c.783G>A (p.Gly261=)
NM_000098.3(CPT2):c.786C>T (p.Asn262=) rs2100272707
NM_000098.3(CPT2):c.792G>A (p.Val264=)
NM_000098.3(CPT2):c.792G>T (p.Val264=) rs2100272728
NM_000098.3(CPT2):c.795C>T (p.Ser265=)
NM_000098.3(CPT2):c.801G>T (p.Ser267=) rs762195160
NM_000098.3(CPT2):c.810G>A (p.Gln270=)
NM_000098.3(CPT2):c.816T>C (p.His272=) rs2100272780
NM_000098.3(CPT2):c.819G>A (p.Leu273=)
NM_000098.3(CPT2):c.819G>T (p.Leu273=)
NM_000098.3(CPT2):c.822G>A (p.Lys274=)
NM_000098.3(CPT2):c.831C>T (p.Leu277=)
NM_000098.3(CPT2):c.837C>T (p.Asp279=) rs2100272829
NM_000098.3(CPT2):c.84C>A (p.Gly28=) rs772541454
NM_000098.3(CPT2):c.861C>T (p.Pro287=) rs1438692877
NM_000098.3(CPT2):c.876C>G (p.Thr292=) rs1179793805
NM_000098.3(CPT2):c.879T>C (p.Ser293=)
NM_000098.3(CPT2):c.87C>T (p.Ser29=)
NM_000098.3(CPT2):c.888A>G (p.Arg296=) rs2100272986
NM_000098.3(CPT2):c.891C>T (p.Asp297=)
NM_000098.3(CPT2):c.906C>T (p.Leu302=)
NM_000098.3(CPT2):c.907A>C (p.Arg303=)
NM_000098.3(CPT2):c.90G>C (p.Gly30=) rs2100254924
NM_000098.3(CPT2):c.90G>T (p.Gly30=)
NM_000098.3(CPT2):c.924T>C (p.Ser308=) rs756328565
NM_000098.3(CPT2):c.930C>A (p.Gly310=) rs371971257
NM_000098.3(CPT2):c.933T>C (p.Asn311=)
NM_000098.3(CPT2):c.939G>A (p.Glu313=)
NM_000098.3(CPT2):c.93C>G (p.Pro31=)
NM_000098.3(CPT2):c.943C>T (p.Leu315=) rs772621468
NM_000098.3(CPT2):c.954G>A (p.Val318=) rs2100273164
NM_000098.3(CPT2):c.960G>C (p.Ser320=)
NM_000098.3(CPT2):c.963A>G (p.Ala321=) rs1438452698
NM_000098.3(CPT2):c.966G>A (p.Val322=) rs986941002
NM_000098.3(CPT2):c.975C>A (p.Leu325=)
NM_000098.3(CPT2):c.978C>T (p.Cys326=) rs1488175615
NM_000098.3(CPT2):c.993C>A (p.Pro331=) rs2100273254
NM_000098.3(CPT2):c.996T>C (p.Ile332=) rs1645418009
NM_000098.3(CPT2):c.9C>T (p.Pro3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.