ClinVar Miner

List of variants in gene MCCC2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.738+36G>A rs12516456 0.80304
NM_022132.5(MCCC2):c.*1243G>C rs7731970 0.80030
NM_022132.5(MCCC2):c.*247C>T rs1135667 0.78164
NM_022132.4(MCCC2):c.-303C>G rs13157835 0.77735
NM_022132.5(MCCC2):c.1149+177C>T rs56007073 0.77383
NM_022132.5(MCCC2):c.1489-233C>T rs6875115 0.76793
NM_022132.5(MCCC2):c.804-261T>C rs2270920 0.74783
NM_022132.5(MCCC2):c.1073-209G>A rs7379830 0.74176
NM_022132.5(MCCC2):c.1149+179C>T rs58751826 0.71025
NM_022132.5(MCCC2):c.1575-64A>G rs7443786 0.69711
NM_022132.5(MCCC2):c.1488+312C>T rs7380859 0.65972
NM_022132.5(MCCC2):c.999+190G>A rs277985 0.48113
NM_022132.4(MCCC2):c.-336A>T rs467413 0.44234
NM_022132.5(MCCC2):c.803+71C>T rs277981 0.41735
NM_022132.5(MCCC2):c.739-92G>A rs277980 0.41731
NM_022132.5(MCCC2):c.1000-187C>G rs277936 0.39159
NM_022132.5(MCCC2):c.739-262C>T rs277979 0.37730
NM_022132.5(MCCC2):c.625-339C>T rs277994 0.33668
NM_022132.5(MCCC2):c.1574+237G>A rs277976 0.31232
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_022132.5(MCCC2):c.282-334G>A rs111621658 0.30285
NM_022132.5(MCCC2):c.803+239T>C rs277982 0.30010
NM_022132.5(MCCC2):c.*1198C>T rs277975 0.28389
NM_022132.5(MCCC2):c.1216+232G>A rs6895748 0.09394
NM_022132.5(MCCC2):c.*593G>T rs60069076 0.09309
NM_022132.5(MCCC2):c.738+132C>T rs77085070 0.08077
NM_022132.5(MCCC2):c.1149+138_1149+139del rs376674402 0.06347
NM_022132.5(MCCC2):c.1149+138A>G rs80094732 0.05084
NM_022132.5(MCCC2):c.999+39T>G rs6891649 0.03059
NM_022132.5(MCCC2):c.739-91G>C rs142761945 0.02899
NM_022132.5(MCCC2):c.512-114G>A rs6885247 0.02880
NM_022132.5(MCCC2):c.739-25C>T rs6861176 0.01639
NM_022132.5(MCCC2):c.625-245C>T rs16903487 0.01602
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_022132.5(MCCC2):c.1216+163A>G rs6879121 0.01135
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.384-80T>C rs62361814 0.01111
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_022132.5(MCCC2):c.999+105A>G rs114421004 0.01048
NM_022132.5(MCCC2):c.1000-299G>A rs16868960 0.00951
NM_022132.5(MCCC2):c.739-201C>T rs79414974 0.00934
NM_022132.5(MCCC2):c.511+204A>G rs142949291 0.00835
NM_022132.5(MCCC2):c.384-43A>G rs113707117 0.00756
NM_022132.5(MCCC2):c.1072+57A>G rs116384281 0.00662
NM_022132.5(MCCC2):c.1000-151T>C rs148769612 0.00645
NM_022132.5(MCCC2):c.130-79T>C rs148854949 0.00593
NM_022132.5(MCCC2):c.1150-105G>T rs73763910 0.00568
NC_000005.10:g.71587242G>A rs140854474 0.00503
NM_022132.5(MCCC2):c.196+100T>A rs1017105812 0.00485
NM_022132.5(MCCC2):c.1150-76T>G rs114346617 0.00421
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_022132.5(MCCC2):c.1073-230A>G rs569365637 0.00364
NM_022132.5(MCCC2):c.129+146A>G rs183578809 0.00297
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_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670 0.00045
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser) rs142887940 0.00016
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00011
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) rs371336335 0.00011
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00006
NM_022132.5(MCCC2):c.384-20A>G rs770917710 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) rs750965429 0.00004
NM_022132.5(MCCC2):c.1488+3C>T rs374049769 0.00004
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022132.5(MCCC2):c.1019A>T (p.Asp340Val) rs398124370 0.00002
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093 0.00002
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys) rs145475202 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022132.5(MCCC2):c.6G>C (p.Trp2Cys) rs727504007 0.00002
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) rs398124371 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val) rs727504011 0.00001
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val) rs1747390697 0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) rs780304038 0.00001
NM_022132.5(MCCC2):c.142C>T (p.Gln48Ter) rs1184301452 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) rs766384881 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.32C>T (p.Pro11Leu) rs986973442 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.625-17G>A rs771274447 0.00001
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
GRCh37/hg19 5q13.2(chr5:70925030-70953012)x0
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.-117A>G rs11746722
NM_022132.5(MCCC2):c.1000-237T>G rs116390653
NM_022132.5(MCCC2):c.1017G>A (p.Val339=) rs1580325457
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1095C>T (p.Tyr365=) rs1580327826
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1149+137_1149+138insGT rs746221732
NM_022132.5(MCCC2):c.1149+137_1149+138insGTGT rs746221732
NM_022132.5(MCCC2):c.1149+139TG[20] rs61210707
NM_022132.5(MCCC2):c.1149+139TG[21] rs61210707
NM_022132.5(MCCC2):c.1149+139TG[22] rs61210707
NM_022132.5(MCCC2):c.1149+139TG[23] rs61210707
NM_022132.5(MCCC2):c.1149+139TG[24] rs61210707
NM_022132.5(MCCC2):c.1149+167_1149+180del rs1174093285
NM_022132.5(MCCC2):c.1149+169_1149+180del rs1480662486
NM_022132.5(MCCC2):c.1149+173_1149+178del rs1247883051
NM_022132.5(MCCC2):c.1149+176GC[2] rs764993022
NM_022132.5(MCCC2):c.1149+179_1149+182del rs764993022
NM_022132.5(MCCC2):c.1149+5G>A
NM_022132.5(MCCC2):c.1150-135dup rs70992994
NM_022132.5(MCCC2):c.130-72del rs371137817
NM_022132.5(MCCC2):c.1378A>G (p.Arg460Gly)
NM_022132.5(MCCC2):c.1410C>T (p.Ile470=)
NM_022132.5(MCCC2):c.1417A>G (p.Met473Val) rs2112469155
NM_022132.5(MCCC2):c.1488+103G>C rs169406
NM_022132.5(MCCC2):c.1488+111G>T rs2112469577
NM_022132.5(MCCC2):c.1488+113G>A rs182191
NM_022132.5(MCCC2):c.1489-111T>G rs6888301
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+73G>A rs2242372
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1642G>A (p.Ala548Thr)
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
NM_022132.5(MCCC2):c.196+113del rs72536613
NM_022132.5(MCCC2):c.196+113dup rs72536613
NM_022132.5(MCCC2):c.196+98_196+99insA rs35924336
NM_022132.5(MCCC2):c.197-192dup rs6149065
NM_022132.5(MCCC2):c.197-75_197-69del rs4062875
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.302C>A (p.Ser101Tyr) rs748028684
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) rs398124372
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu) rs1474201425
NM_022132.5(MCCC2):c.446C>T (p.Thr149Ile) rs727504008
NM_022132.5(MCCC2):c.449_450del (p.Val150fs) rs1554134061
NM_022132.5(MCCC2):c.456dup (p.Gln153fs) rs1580280976
NM_022132.5(MCCC2):c.506A>T (p.Tyr169Phe) rs1580281124
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.624+128del rs35873168
NM_022132.5(MCCC2):c.624+128dup rs35873168
NM_022132.5(MCCC2):c.624+57G>T rs113584806
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.739-7G>A rs765082065
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.804-1G>C rs1746865964
NM_022132.5(MCCC2):c.900G>T (p.Leu300Phe)
NM_022132.5(MCCC2):c.999+854T>A

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.