ClinVar Miner

List of variants in gene MCCC1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93354
NM_020166.5(MCCC1):c.1978-186G>A rs10804888 0.89482
NM_020166.5(MCCC1):c.1268-255A>G rs9861464 0.89480
NM_020166.5(MCCC1):c.1978-287T>A rs10937105 0.89193
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.5(MCCC1):c.492-222A>G rs6785680 0.89162
NM_020166.5(MCCC1):c.762-187G>A rs7646991 0.89081
NM_020166.5(MCCC1):c.1083+185G>A rs13088830 0.61827
NM_020166.5(MCCC1):c.956-252C>T rs1502762 0.61797
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.2050-193A>G rs12486983 0.56970
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54587
NM_020166.5(MCCC1):c.1870-262C>T rs10937106 0.50107
NM_020166.5(MCCC1):c.1084-217G>A rs2292057 0.50090
NM_020166.5(MCCC1):c.1268-161C>T rs2270967 0.50080
NM_020166.5(MCCC1):c.1731+276G>T rs7640612 0.49990
NM_020166.5(MCCC1):c.1267+258G>A rs2292058 0.08289
NM_020166.5(MCCC1):c.1595-178G>A rs140278703 0.06872
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06739
NM_020166.5(MCCC1):c.370-255G>T rs78297829 0.06499
NM_020166.5(MCCC1):c.873+337G>A rs113566442 0.06361
NM_020166.5(MCCC1):c.874-239A>G rs62293212 0.06079
NM_020166.5(MCCC1):c.1869+255A>G rs73883998 0.03531
NC_000003.12:g.183099917C>A rs7615451 0.03453
NM_020166.5(MCCC1):c.762-182A>T rs74655374 0.03187
NM_020166.5(MCCC1):c.956-324G>T rs3772721 0.03014
NM_020166.5(MCCC1):c.1977+94T>G rs77932064 0.02845
NM_020166.5(MCCC1):c.492-126G>A rs6772568 0.02755
NM_020166.5(MCCC1):c.491+188A>T rs78684959 0.02600
NM_020166.5(MCCC1):c.1595-100T>C rs7629760 0.02592
NM_020166.5(MCCC1):c.1595-102T>C rs7629763 0.02590
NM_020166.5(MCCC1):c.1978-194C>A rs73883994 0.02390
NM_020166.5(MCCC1):c.1595-181T>C rs112734059 0.02246
NM_020166.5(MCCC1):c.1268-90C>T rs140957052 0.01709
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_020166.5(MCCC1):c.273+270C>T rs74380421 0.01143
NM_020166.5(MCCC1):c.2049+31G>A rs73068824 0.01038
NM_020166.5(MCCC1):c.1595-96C>T rs12330492 0.00882
NM_020166.5(MCCC1):c.1595-111A>G rs112025174 0.00864
NM_020166.5(MCCC1):c.1594+127G>T rs143318455 0.00814
NM_020166.5(MCCC1):c.873+36G>A rs114706421 0.00527
NM_020166.5(MCCC1):c.273+69A>G rs150193548 0.00505
NM_020166.5(MCCC1):c.1682-75G>T rs73068830 0.00487
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_020166.5(MCCC1):c.2049+237T>C rs537365135 0.00418
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 0.00003
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.1268-7A>G rs1417892958 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1397A>G (p.Asn466Ser) rs751228970 0.00001
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) rs727504003 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
GRCh37/hg19 3q27.1(chr3:182759355-182759538)x1
NC_000003.12:g.183099673dup rs141274667
NM_020166.5(MCCC1):c.1010A>G (p.Asn337Ser) rs2108486713
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1083+208C>G
NM_020166.5(MCCC1):c.1083+304dup rs35283773
NM_020166.5(MCCC1):c.1083+320del rs35283773
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro) rs794727036
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-89G>A rs73068841
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) rs398124351
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile) rs1000891879
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) rs1713695107
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1595-180A>G
NM_020166.5(MCCC1):c.1681+92_1681+100dup rs146243904
NM_020166.5(MCCC1):c.1682-246_1682-242del rs72489915
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.1790dup (p.Tyr597Ter) rs2108441527
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=) rs1577239619
NM_020166.5(MCCC1):c.1870-134T>C rs9834143
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.192G>A (p.Val64=) rs1360164882
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) rs147741073
NM_020166.5(MCCC1):c.2085del (p.Val697fs) rs772010858
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.492-92T>A rs112348183
NM_020166.5(MCCC1):c.54G>A (p.Arg18=) rs1577376491
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.761+265del rs11313652
NM_020166.5(MCCC1):c.776A>T (p.Gln259Leu)
NM_020166.5(MCCC1):c.857T>C (p.Ile286Thr) rs2108505511
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.89+42G>A rs57347018
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707

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.