ClinVar Miner

List of variants reported as likely benign for 3-methylcrotonyl-CoA carboxylase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 553
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) rs147116804 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00037
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447 0.00037
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877 0.00034
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295 0.00012
NM_020166.5(MCCC1):c.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.89+13G>C rs774187137 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00011
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.738+16C>T rs554502924 0.00007
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 0.00006
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00006
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) rs750602906 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 0.00006
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=) rs373146322 0.00006
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=) rs548725229 0.00006
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532 0.00006
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00006
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 0.00005
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912 0.00005
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=) rs200915932 0.00005
NM_022132.5(MCCC2):c.72C>T (p.His24=) rs374686220 0.00005
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=) rs140579569 0.00004
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854 0.00004
NM_020166.5(MCCC1):c.136+7A>G rs559629034 0.00004
NM_020166.5(MCCC1):c.165A>G (p.Ala55=) rs373199843 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) rs750778690 0.00004
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=) rs765801018 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.999+16A>G rs1241526106 0.00004
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=) rs368135707 0.00003
NM_020166.5(MCCC1):c.1212C>T (p.His404=) rs769780560 0.00003
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) rs774243822 0.00003
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) rs757687424 0.00003
NM_020166.5(MCCC1):c.1377+17C>T rs375624644 0.00003
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) rs547421709 0.00003
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=) rs370727510 0.00003
NM_020166.5(MCCC1):c.300C>T (p.Pro100=) rs747409426 0.00003
NM_020166.5(MCCC1):c.492-5T>C rs775353666 0.00003
NM_020166.5(MCCC1):c.759G>A (p.Pro253=) rs761851977 0.00003
NM_020166.5(MCCC1):c.78C>T (p.Leu26=) rs760268547 0.00003
NM_020166.5(MCCC1):c.90-20C>T rs369103962 0.00003
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) rs201238842 0.00003
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310 0.00003
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 0.00003
NM_022132.5(MCCC2):c.219A>C (p.Ala73=) rs1048291170 0.00003
NM_022132.5(MCCC2):c.25C>T (p.Leu9=) rs1285116638 0.00003
NM_022132.5(MCCC2):c.282-8C>T rs574221691 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.999+8A>G rs575141754 0.00003
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) rs765869735 0.00002
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) rs760366008 0.00002
NM_020166.5(MCCC1):c.639+9G>T rs780170482 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=) rs766440020 0.00002
NM_022132.5(MCCC2):c.1216+8A>G rs532313245 0.00002
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093 0.00002
NM_022132.5(MCCC2):c.1488+10del rs767400522 0.00002
NM_022132.5(MCCC2):c.78C>T (p.Asp26=) rs774475879 0.00002
NM_022132.5(MCCC2):c.903+9G>A rs747069963 0.00002
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) rs746900508 0.00001
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=) rs777766730 0.00001
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) rs781302711 0.00001
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=) rs779316162 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1377+18G>A rs1373677740 0.00001
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=) rs780740389 0.00001
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=) rs769042107 0.00001
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.183C>T (p.Ala61=) rs756447790 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=) rs1382492613 0.00001
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751 0.00001
NM_020166.5(MCCC1):c.2049+10T>C rs1233685852 0.00001
NM_020166.5(MCCC1):c.2082A>G (p.Val694=) rs765720892 0.00001
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041 0.00001
NM_020166.5(MCCC1):c.2136C>T (p.Val712=) rs984881958 0.00001
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) rs781286566 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.492-6C>T rs746685018 0.00001
NM_020166.5(MCCC1):c.492-7T>C rs768336115 0.00001
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487 0.00001
NM_022132.5(MCCC2):c.105G>A (p.Pro35=) rs1365918358 0.00001
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=) rs1394757971 0.00001
NM_022132.5(MCCC2):c.1216+10T>C rs777129152 0.00001
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=) rs375010821 0.00001
NM_022132.5(MCCC2):c.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.13C>T (p.Leu5=) rs954414863 0.00001
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=) rs1345577961 0.00001
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=) rs201279542 0.00001
NM_022132.5(MCCC2):c.1488+9C>T rs1561848361 0.00001
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=) rs1747468314 0.00001
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=) rs146674014 0.00001
NM_022132.5(MCCC2):c.1574+7G>T rs766044711 0.00001
NM_022132.5(MCCC2):c.196+20C>T rs766988420 0.00001
NM_022132.5(MCCC2):c.336G>A (p.Glu112=) rs1325018619 0.00001
NM_022132.5(MCCC2):c.383+17T>C rs1745350073 0.00001
NM_022132.5(MCCC2):c.456A>G (p.Lys152=) rs1409261895 0.00001
NM_022132.5(MCCC2):c.51C>G (p.Pro17=) rs1390205513 0.00001
NM_022132.5(MCCC2):c.549T>C (p.Asp183=) rs1400921456 0.00001
NM_022132.5(MCCC2):c.624+13G>T rs376190037 0.00001
NM_022132.5(MCCC2):c.625-17G>A rs771274447 0.00001
NM_022132.5(MCCC2):c.627C>T (p.Ile209=) rs777033953 0.00001
NM_022132.5(MCCC2):c.651C>T (p.Thr217=) rs1380948898 0.00001
NM_022132.5(MCCC2):c.657A>C (p.Gly219=) rs1350958601 0.00001
NM_022132.5(MCCC2):c.736T>C (p.Leu246=) rs1303225809 0.00001
NM_022132.5(MCCC2):c.739-7G>T rs765082065 0.00001
NM_022132.5(MCCC2):c.753T>C (p.Thr251=) rs3736398 0.00001
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663 0.00001
NM_022132.5(MCCC2):c.804-10T>C rs1295275733 0.00001
NM_022132.5(MCCC2):c.903+8C>T rs1348079727 0.00001
NM_022132.5(MCCC2):c.904-4G>T rs758885126 0.00001
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
NM_020166.5(MCCC1):c.1068G>A (p.Val356=) rs1175377728
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=) rs773029355
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=) rs2108486547
NM_020166.5(MCCC1):c.1083+16C>G
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
NM_020166.5(MCCC1):c.1084-6T>C
NM_020166.5(MCCC1):c.1084-8A>G
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=) rs777891780
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
NM_020166.5(MCCC1):c.1267+15A>G
NM_020166.5(MCCC1):c.1267+9A>G rs2108478831
NM_020166.5(MCCC1):c.1268-18C>T
NM_020166.5(MCCC1):c.1268-18del
NM_020166.5(MCCC1):c.1268-19C>A
NM_020166.5(MCCC1):c.1268-20A>C
NM_020166.5(MCCC1):c.1268-6T>C
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) rs759359909
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) rs1713855580
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A
NM_020166.5(MCCC1):c.136+18T>G
NM_020166.5(MCCC1):c.136+8C>G
NM_020166.5(MCCC1):c.136+9A>G
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
NM_020166.5(MCCC1):c.137-15T>C
NM_020166.5(MCCC1):c.137-18dup
NM_020166.5(MCCC1):c.137-7T>A
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1378-17G>C
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=) rs2108470855
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=) rs565662458
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) rs200216718
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) rs1351299439
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) rs2108470530
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) rs1713694212
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.156C>T (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
NM_020166.5(MCCC1):c.1594+10G>T
NM_020166.5(MCCC1):c.1594+12T>A
NM_020166.5(MCCC1):c.1594+12T>C
NM_020166.5(MCCC1):c.1594+9G>A
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1681+10G>A
NM_020166.5(MCCC1):c.1681+13T>C
NM_020166.5(MCCC1):c.1681+7A>G
NM_020166.5(MCCC1):c.1681+9T>C rs2108461619
NM_020166.5(MCCC1):c.1682-12T>C
NM_020166.5(MCCC1):c.1682-16C>T
NM_020166.5(MCCC1):c.1682-6A>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
NM_020166.5(MCCC1):c.1731+7C>T
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) rs2108441668
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) rs2108441635
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) rs2108441478
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) rs2108441402
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
NM_020166.5(MCCC1):c.1869+7T>A rs2108441301
NM_020166.5(MCCC1):c.1869+9T>C
NM_020166.5(MCCC1):c.1870-18T>C
NM_020166.5(MCCC1):c.1870-18_1870-16dup
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
NM_020166.5(MCCC1):c.1977+13C>T
NM_020166.5(MCCC1):c.1977+7A>G rs2108437702
NM_020166.5(MCCC1):c.1977+9A>G rs1712027129
NM_020166.5(MCCC1):c.1977+9A>T
NM_020166.5(MCCC1):c.1978-8del rs747001867
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
NM_020166.5(MCCC1):c.2049+15A>C
NM_020166.5(MCCC1):c.2049+9A>G rs1711715793
NM_020166.5(MCCC1):c.2050-15C>T
NM_020166.5(MCCC1):c.2050-19C>T
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=) rs1203426656
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) rs1718434052
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=) rs781286566
NM_020166.5(MCCC1):c.219A>C (p.Val73=) rs1280526570
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
NM_020166.5(MCCC1):c.264T>C (p.His88=)
NM_020166.5(MCCC1):c.274-18G>A
NM_020166.5(MCCC1):c.274-20A>G
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) rs1204945524
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.369+12G>A
NM_020166.5(MCCC1):c.369+14A>G
NM_020166.5(MCCC1):c.370-4C>A
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) rs2108528534
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) rs2108528517
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) rs1010978187
NM_020166.5(MCCC1):c.491+10T>C
NM_020166.5(MCCC1):c.491+13A>G
NM_020166.5(MCCC1):c.491+14T>G
NM_020166.5(MCCC1):c.491+8T>C
NM_020166.5(MCCC1):c.492-11C>G
NM_020166.5(MCCC1):c.492-16C>A
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
NM_020166.5(MCCC1):c.519T>C (p.Ala173=) rs2108526654
NM_020166.5(MCCC1):c.51C>T (p.Asn17=) rs557695078
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
NM_020166.5(MCCC1):c.582C>T (p.His194=)
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
NM_020166.5(MCCC1):c.639+11G>T rs1716653818
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA rs1716653595
NM_020166.5(MCCC1):c.639+16C>G
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
NM_020166.5(MCCC1):c.639+7T>G
NM_020166.5(MCCC1):c.639+8T>G
NM_020166.5(MCCC1):c.639+9G>A
NM_020166.5(MCCC1):c.640-10T>C rs1011275855
NM_020166.5(MCCC1):c.640-16A>G
NM_020166.5(MCCC1):c.640-5C>A rs892786406
NM_020166.5(MCCC1):c.640-7C>G rs1414857427
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) rs2108526043
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) rs2108526023
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) rs750778690
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
NM_020166.5(MCCC1):c.69G>A (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.738C>A (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
NM_020166.5(MCCC1):c.762-13del
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
NM_020166.5(MCCC1):c.873+16A>G
NM_020166.5(MCCC1):c.873+17G>C
NM_020166.5(MCCC1):c.873+17G>T
NM_020166.5(MCCC1):c.874-13A>T
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-4A>G
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
NM_020166.5(MCCC1):c.89+12G>A
NM_020166.5(MCCC1):c.89+16A>G
NM_020166.5(MCCC1):c.89+17T>C
NM_020166.5(MCCC1):c.89+8G>A
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
NM_020166.5(MCCC1):c.90-12T>C
NM_020166.5(MCCC1):c.90-19T>G
NM_020166.5(MCCC1):c.90-5T>C
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T
NM_020166.5(MCCC1):c.956-15T>C
NM_020166.5(MCCC1):c.956-19A>G
NM_020166.5(MCCC1):c.956-7C>G
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.969T>C (p.Phe323=) rs2108486797
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448
NM_022132.5(MCCC2):c.1000-17G>A
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1072+12A>T
NM_022132.5(MCCC2):c.1072+14G>A
NM_022132.5(MCCC2):c.1072+17T>C
NM_022132.5(MCCC2):c.1072+9G>A rs779091338
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
NM_022132.5(MCCC2):c.114C>T (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1150-17A>G
NM_022132.5(MCCC2):c.1150-17_1150-16del rs904388490
NM_022132.5(MCCC2):c.1150-4A>G
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=) rs2112463698
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=) rs2112463773
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
NM_022132.5(MCCC2):c.1216+12G>T
NM_022132.5(MCCC2):c.1216+19del
NM_022132.5(MCCC2):c.1217-10T>G rs2112467673
NM_022132.5(MCCC2):c.1217-16C>G
NM_022132.5(MCCC2):c.1217-16C>T
NM_022132.5(MCCC2):c.1217-19T>C
NM_022132.5(MCCC2):c.1217-6_1217-3del
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=) rs1747359129
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=) rs752877391
NM_022132.5(MCCC2):c.129+10G>A
NM_022132.5(MCCC2):c.129+16C>T
NM_022132.5(MCCC2):c.129+17G>C
NM_022132.5(MCCC2):c.129+7T>C
NM_022132.5(MCCC2):c.129+8G>C
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.130-16T>C
NM_022132.5(MCCC2):c.130-20C>A
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1373+16T>G
NM_022132.5(MCCC2):c.1374-15C>T
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=) rs758144158
NM_022132.5(MCCC2):c.1488+11T>C
NM_022132.5(MCCC2):c.1488+15C>T
NM_022132.5(MCCC2):c.1488+18T>G
NM_022132.5(MCCC2):c.1488+8T>A
NM_022132.5(MCCC2):c.1488+9C>G rs1561848361
NM_022132.5(MCCC2):c.1489-10T>C
NM_022132.5(MCCC2):c.1489-16G>A rs1747467303
NM_022132.5(MCCC2):c.1489-4T>C rs1747467560
NM_022132.5(MCCC2):c.1489-5T>C
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=) rs140220101
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=) rs1315911728
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+15A>G
NM_022132.5(MCCC2):c.1575-10C>A
NM_022132.5(MCCC2):c.1575-10C>T rs1303395410
NM_022132.5(MCCC2):c.1575-15T>C
NM_022132.5(MCCC2):c.1575-5G>T rs924068629
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=) rs2112478257
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=) rs764970690
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=) rs781648337
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=) rs1200111967
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
NM_022132.5(MCCC2):c.196+19C>A
NM_022132.5(MCCC2):c.197-7A>G
NM_022132.5(MCCC2):c.210A>G (p.Lys70=) rs2112293469
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) rs2112293709
NM_022132.5(MCCC2):c.244T>C (p.Leu82=) rs2112293727
NM_022132.5(MCCC2):c.246G>A (p.Leu82=) rs1427801007
NM_022132.5(MCCC2):c.252A>G (p.Arg84=) rs1295786119
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.281+10T>G
NM_022132.5(MCCC2):c.281+14C>T
NM_022132.5(MCCC2):c.282-15C>T
NM_022132.5(MCCC2):c.282-9T>C rs1464131809
NM_022132.5(MCCC2):c.321G>A (p.Gln107=) rs2112308941
NM_022132.5(MCCC2):c.324A>G (p.Leu108=) rs2112308948
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
NM_022132.5(MCCC2):c.384-10T>C
NM_022132.5(MCCC2):c.384-8C>G rs2112319784
NM_022132.5(MCCC2):c.384-9G>A rs2112319771
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
NM_022132.5(MCCC2):c.489C>T (p.Asn163=) rs774803841
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
NM_022132.5(MCCC2):c.511+10del
NM_022132.5(MCCC2):c.511+11A>C
NM_022132.5(MCCC2):c.511+13A>T
NM_022132.5(MCCC2):c.511+14G>T
NM_022132.5(MCCC2):c.511+20A>G
NM_022132.5(MCCC2):c.512-14T>A rs765487963
NM_022132.5(MCCC2):c.512-19T>G
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
NM_022132.5(MCCC2):c.528A>T (p.Ala176=) rs753733837
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
NM_022132.5(MCCC2):c.537T>A (p.Pro179=) rs1275219211
NM_022132.5(MCCC2):c.540A>G (p.Arg180=) rs2112328806
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
NM_022132.5(MCCC2):c.618T>C (p.Ile206=) rs2112329401
NM_022132.5(MCCC2):c.624+10C>A rs2112329449
NM_022132.5(MCCC2):c.624+15A>C
NM_022132.5(MCCC2):c.624+15A>G
NM_022132.5(MCCC2):c.625-15G>A
NM_022132.5(MCCC2):c.625-18C>T
NM_022132.5(MCCC2):c.625-19T>C
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) rs760020328
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
NM_022132.5(MCCC2):c.663C>T (p.Ala221=) rs978623277
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) rs1337800475
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
NM_022132.5(MCCC2):c.699A>G (p.Val233=) rs2112412515
NM_022132.5(MCCC2):c.708G>A (p.Gln236=) rs2112412564
NM_022132.5(MCCC2):c.714C>T (p.Thr238=) rs200849501
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
NM_022132.5(MCCC2):c.726A>G (p.Ala242=) rs2112412678
NM_022132.5(MCCC2):c.729A>C (p.Gly243=) rs535377555
NM_022132.5(MCCC2):c.738+11A>G
NM_022132.5(MCCC2):c.738+17G>A
NM_022132.5(MCCC2):c.738+8C>A rs1746541390
NM_022132.5(MCCC2):c.739-11C>T
NM_022132.5(MCCC2):c.739-4G>T
NM_022132.5(MCCC2):c.739-7G>C rs765082065
NM_022132.5(MCCC2):c.739-8T>C
NM_022132.5(MCCC2):c.739-9T>C
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
NM_022132.5(MCCC2):c.765A>G (p.Val255=) rs1405840387
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) rs1041557611
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
NM_022132.5(MCCC2):c.803+12A>C
NM_022132.5(MCCC2):c.803+13T>C
NM_022132.5(MCCC2):c.803+14G>T
NM_022132.5(MCCC2):c.803+7C>T rs1561840847
NM_022132.5(MCCC2):c.803+9_803+10del rs1561840849
NM_022132.5(MCCC2):c.804-4G>A
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) rs2112437391
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
NM_022132.5(MCCC2):c.861T>C (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
NM_022132.5(MCCC2):c.879T>C (p.Asn293=) rs753100774
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
NM_022132.5(MCCC2):c.898T>C (p.Leu300=) rs1746869158
NM_022132.5(MCCC2):c.903+13T>C
NM_022132.5(MCCC2):c.903+20A>T
NM_022132.5(MCCC2):c.904-10A>G rs1746872931
NM_022132.5(MCCC2):c.904-15T>C
NM_022132.5(MCCC2):c.904-16A>G
NM_022132.5(MCCC2):c.904-19A>G
NM_022132.5(MCCC2):c.90G>A (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) rs1746875605
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) rs2112438541
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)

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