ClinVar Miner

List of variants reported as likely benign for 3-methylcrotonyl-CoA carboxylase 1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01175
NM_020166.5(MCCC1):c.874-95A>G rs144420749 0.00788
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00748
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00079
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 0.00055
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00054
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) rs147116804 0.00052
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447 0.00036
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00032
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00032
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00032
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877 0.00031
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00020
NM_020166.5(MCCC1):c.1268-20A>C rs768747546 0.00015
NM_020166.5(MCCC1):c.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00007
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00007
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 0.00007
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 0.00006
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) rs547421709 0.00005
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00005
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) rs750602906 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 0.00005
NM_020166.5(MCCC1):c.89+16A>G rs569218602 0.00005
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=) rs140579569 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.1113C>T (p.Ser371=) rs368135707 0.00003
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) rs774243822 0.00003
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854 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.1681+10G>A rs373288903 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.369+14A>G rs753971653 0.00003
NM_020166.5(MCCC1):c.492-5T>C rs775353666 0.00003
NM_020166.5(MCCC1):c.495A>G (p.Thr165=) rs771823625 0.00003
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) rs760366008 0.00003
NM_020166.5(MCCC1):c.640-16A>G rs528861529 0.00003
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244 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_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072 0.00002
NM_020166.5(MCCC1):c.1267+15A>G rs753487320 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=) rs1047826017 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00002
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) rs765869735 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1084-8A>G rs1393647367 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.1212C>T (p.His404=) rs769780560 0.00001
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) rs781302711 0.00001
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=) rs758968895 0.00001
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=) rs750015240 0.00001
NM_020166.5(MCCC1):c.1268-6T>C rs535774158 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.136+18T>G rs780178088 0.00001
NM_020166.5(MCCC1):c.137-7T>A rs1454051203 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.1428C>T (p.His476=) rs1365468147 0.00001
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=) rs147278054 0.00001
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893 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.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.1870-18T>C rs776901386 0.00001
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=) rs1399603246 0.00001
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751 0.00001
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=) rs1027703264 0.00001
NM_020166.5(MCCC1):c.2049+10T>C rs1233685852 0.00001
NM_020166.5(MCCC1):c.2050-15C>T rs200911643 0.00001
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) rs1718434052 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.2091G>A (p.Val697=) rs1349602794 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.274-18G>A rs1350796996 0.00001
NM_020166.5(MCCC1):c.274-20A>G rs1717927826 0.00001
NM_020166.5(MCCC1):c.370-4C>A rs1716772093 0.00001
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00001
NM_020166.5(MCCC1):c.491+14T>G rs746847354 0.00001
NM_020166.5(MCCC1):c.491+8T>C rs1363811125 0.00001
NM_020166.5(MCCC1):c.492-16C>A rs776374304 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.639+16C>G rs750796104 0.00001
NM_020166.5(MCCC1):c.639+7T>G rs747188547 0.00001
NM_020166.5(MCCC1):c.639+9G>T rs780170482 0.00001
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) rs750778690 0.00001
NM_020166.5(MCCC1):c.696G>A (p.Arg232=) rs1363242904 0.00001
NM_020166.5(MCCC1):c.699A>G (p.Arg233=) rs778160767 0.00001
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851 0.00001
NM_020166.5(MCCC1):c.873+16A>G rs1249912961 0.00001
NM_020166.5(MCCC1):c.89+12G>A rs1553870973 0.00001
NM_020166.5(MCCC1):c.89+13G>C rs774187137 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.90-19T>G rs1200531033 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=) rs1560228922
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=) rs1714475994
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 rs1305184220
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
NM_020166.5(MCCC1):c.1084-13A>G
NM_020166.5(MCCC1):c.1084-6T>C rs71314277
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=) rs746900508
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.1110G>A (p.Leu370=)
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=) rs763595289
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1197A>G (p.Ala399=)
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=) rs2530165719
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=) rs2530165719
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
NM_020166.5(MCCC1):c.1267+9A>G rs2108478831
NM_020166.5(MCCC1):c.1268-18C>T rs1020352443
NM_020166.5(MCCC1):c.1268-18del rs752201311
NM_020166.5(MCCC1):c.1268-19C>A rs551338947
NM_020166.5(MCCC1):c.12C>T (p.Ala4=) rs779772103
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=) rs1288704064
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A rs780178088
NM_020166.5(MCCC1):c.136+8C>G rs1718601850
NM_020166.5(MCCC1):c.136+9A>G rs1397967138
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=) rs2530144084
NM_020166.5(MCCC1):c.137-15T>C rs2530511468
NM_020166.5(MCCC1):c.137-18dup rs2530511533
NM_020166.5(MCCC1):c.1371G>A (p.Gln457=)
NM_020166.5(MCCC1):c.1377+16C>A rs1713846886
NM_020166.5(MCCC1):c.1378-17G>A
NM_020166.5(MCCC1):c.1378-17G>C rs770328896
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val) rs727504003
NM_020166.5(MCCC1):c.139A>C (p.Arg47=) rs142664377
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=) rs1474160328
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=) rs2530130016
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.1449C>T (p.Asn483=) rs200216718
NM_020166.5(MCCC1):c.1452G>T (p.Val484=) rs1305840579
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) rs1351299439
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=) rs2530129042
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=) rs1459688958
NM_020166.5(MCCC1):c.147T>C (p.Ile49=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=) rs2530128464
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=) rs778907392
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=) rs2530128224
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=) rs2530128185
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.156C>T (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=) rs1713687096
NM_020166.5(MCCC1):c.1594+10G>T rs2530126982
NM_020166.5(MCCC1):c.1594+12T>A rs756058707
NM_020166.5(MCCC1):c.1594+12T>C rs756058707
NM_020166.5(MCCC1):c.1594+9G>A rs1713684029
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.165A>C (p.Ala55=)
NM_020166.5(MCCC1):c.1681+13T>C rs748070009
NM_020166.5(MCCC1):c.1681+7A>G rs2530101145
NM_020166.5(MCCC1):c.1681+9T>C rs2108461619
NM_020166.5(MCCC1):c.1682-12T>C rs1026293783
NM_020166.5(MCCC1):c.1682-16C>T rs1217848405
NM_020166.5(MCCC1):c.1682-6A>C rs767892969
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1731+7C>T rs2530057468
NM_020166.5(MCCC1):c.1732-18A>G
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=) rs2530043877
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=) rs749885842
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=) rs2530043333
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=) rs201782543
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) rs2108441402
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=) rs746389830
NM_020166.5(MCCC1):c.1869+7T>A rs2108441301
NM_020166.5(MCCC1):c.1869+9T>C rs2530042514
NM_020166.5(MCCC1):c.1870-18_1870-16dup rs2530032385
NM_020166.5(MCCC1):c.1881T>C (p.Ile627=)
NM_020166.5(MCCC1):c.1899C>T (p.Val633=)
NM_020166.5(MCCC1):c.1977+13C>T rs1261040968
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 rs1712027129
NM_020166.5(MCCC1):c.1978-8del rs747001867
NM_020166.5(MCCC1):c.1986C>T (p.Val662=)
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=) rs1577229985
NM_020166.5(MCCC1):c.198C>T (p.Arg66=) rs2530510023
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=) rs370727510
NM_020166.5(MCCC1):c.2049+15A>C rs1456250624
NM_020166.5(MCCC1):c.2049+9A>G rs1711715793
NM_020166.5(MCCC1):c.2050-19C>T rs2530004092
NM_020166.5(MCCC1):c.2050-20C>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.2094C>T (p.Phe698=) rs1711544489
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=) rs2530003114
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=) rs2530003089
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=) rs1280526570
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=) rs745696684
NM_020166.5(MCCC1):c.258C>T (p.Ser86=) rs980966352
NM_020166.5(MCCC1):c.264T>C (p.His88=) rs969537507
NM_020166.5(MCCC1):c.273+15T>C
NM_020166.5(MCCC1):c.285A>G (p.Ala95=) rs2530463066
NM_020166.5(MCCC1):c.297C>T (p.Gly99=) rs2530462924
NM_020166.5(MCCC1):c.300C>A (p.Pro100=) rs747409426
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=) rs2530560387
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.369+12G>A rs2530461674
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 rs768297502
NM_020166.5(MCCC1):c.491+13A>G rs1046779622
NM_020166.5(MCCC1):c.492-11C>G rs2530364405
NM_020166.5(MCCC1):c.492-7T>C rs768336115
NM_020166.5(MCCC1):c.498C>T (p.Ser166=) rs2530364171
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=) rs374255867
NM_020166.5(MCCC1):c.582C>T (p.His194=) rs758839058
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.603T>G (p.Pro201=) rs765869735
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.627T>G (p.Gly209=) rs1452179241
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+16_639+17insCCACACACACAT rs1387327286
NM_020166.5(MCCC1):c.639+8T>G rs2530362393
NM_020166.5(MCCC1):c.639+9G>A rs780170482
NM_020166.5(MCCC1):c.640-10T>C rs1011275855
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.693A>G (p.Ala231=)
NM_020166.5(MCCC1):c.69G>A (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=) rs1393268707
NM_020166.5(MCCC1):c.761+9G>T
NM_020166.5(MCCC1):c.762-13del rs770093653
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.786T>G (p.Gly262=) rs776727181
NM_020166.5(MCCC1):c.79C>T (p.Leu27=) rs2530559690
NM_020166.5(MCCC1):c.804T>C (p.Ala268=) rs749588088
NM_020166.5(MCCC1):c.813G>A (p.Leu271=) rs2530273685
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.84G>A (p.Pro28=) rs1423922733
NM_020166.5(MCCC1):c.864G>A (p.Glu288=) rs2530273006
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=) rs2530272934
NM_020166.5(MCCC1):c.873+17G>C rs764886151
NM_020166.5(MCCC1):c.873+17G>T rs764886151
NM_020166.5(MCCC1):c.874-13A>T rs771628089
NM_020166.5(MCCC1):c.874-15A>G
NM_020166.5(MCCC1):c.874-15A>T rs1299112018
NM_020166.5(MCCC1):c.874-18T>A rs2530237386
NM_020166.5(MCCC1):c.874-4A>G rs2530237242
NM_020166.5(MCCC1):c.879T>G (p.Gly293=) rs2530237094
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
NM_020166.5(MCCC1):c.89+17T>C rs2530559442
NM_020166.5(MCCC1):c.89+8G>A rs1175133593
NM_020166.5(MCCC1):c.897A>G (p.Arg299=) rs1393833643
NM_020166.5(MCCC1):c.90-12T>C rs754332704
NM_020166.5(MCCC1):c.90-5T>C rs2530526599
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.948T>G (p.Val316=) rs2530236407
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T rs2530236186
NM_020166.5(MCCC1):c.956-15T>C rs1271830126
NM_020166.5(MCCC1):c.956-19A>G rs752640273
NM_020166.5(MCCC1):c.956-7C>G rs2530195207
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=) rs2108486779
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448

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.