ClinVar Miner

List of variants studied for Cranium bifidum occultum

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.117C>T (p.Arg39=) rs376630472 0.00088
NM_002449.5(MSX2):c.23A>G (p.Asn8Ser) rs367636705 0.00027
NM_021926.3(ALX4):c.-81C>T rs886048305 0.00021
NM_021926.4(ALX4):c.217C>T (p.Leu73=) rs766525768 0.00012
NM_002449.5(MSX2):c.379+7G>C rs569601106 0.00008
NM_002449.5(MSX2):c.380-11C>G rs376158014 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_002449.5(MSX2):c.756G>A (p.Val252=) rs542254664 0.00007
NM_002449.5(MSX2):c.286G>T (p.Val96Leu) rs769329948 0.00006
NM_002449.5(MSX2):c.380-18C>T rs200429446 0.00006
NM_002449.5(MSX2):c.789G>A (p.Met263Ile) rs199856192 0.00006
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser) rs754789827 0.00005
NM_002449.5(MSX2):c.95A>T (p.Glu32Val) rs780593593 0.00005
NM_002449.5(MSX2):c.380-9G>C rs769673082 0.00004
NM_002449.5(MSX2):c.465C>T (p.Leu155=) rs1454617675 0.00004
NM_002449.5(MSX2):c.722C>T (p.Pro241Leu) rs368570722 0.00004
NM_002449.5(MSX2):c.723G>A (p.Pro241=) rs201103544 0.00004
NM_002449.5(MSX2):c.255C>T (p.Gly85=) rs367614252 0.00003
NM_002449.5(MSX2):c.338C>T (p.Ala113Val) rs367897914 0.00003
NM_002449.5(MSX2):c.379+9G>A rs766596963 0.00003
NM_002449.5(MSX2):c.484C>T (p.Arg162Cys) rs555293970 0.00003
NM_002449.5(MSX2):c.591G>A (p.Ala197=) rs150352201 0.00003
NM_002449.5(MSX2):c.683C>T (p.Ser228Leu) rs373857075 0.00003
NM_002449.5(MSX2):c.749C>T (p.Pro250Leu) rs374244313 0.00003
NM_002449.5(MSX2):c.751C>T (p.Pro251Ser) rs776218196 0.00003
NM_002449.5(MSX2):c.252C>T (p.His84=) rs531764887 0.00002
NM_002449.5(MSX2):c.451A>G (p.Thr151Ala) rs1055665549 0.00002
NM_002449.5(MSX2):c.803A>G (p.Ter268=) rs1436220047 0.00002
NM_021926.4(ALX4):c.*3755_*3760del rs886048284 0.00002
NM_002449.5(MSX2):c.116G>T (p.Arg39Leu) rs1385761840 0.00001
NM_002449.5(MSX2):c.174G>A (p.Pro58=) rs1234123597 0.00001
NM_002449.5(MSX2):c.178A>C (p.Lys60Gln) rs1353231469 0.00001
NM_002449.5(MSX2):c.213G>T (p.Ser71=) rs889301558 0.00001
NM_002449.5(MSX2):c.215C>G (p.Ala72Gly) rs1338021252 0.00001
NM_002449.5(MSX2):c.228G>A (p.Leu76=) rs999180495 0.00001
NM_002449.5(MSX2):c.332A>T (p.Asp111Val) rs766394089 0.00001
NM_002449.5(MSX2):c.360C>T (p.Gly120=) rs778509123 0.00001
NM_002449.5(MSX2):c.39C>T (p.Pro13=) rs766427771 0.00001
NM_002449.5(MSX2):c.428G>A (p.Arg143Gln) rs751060486 0.00001
NM_002449.5(MSX2):c.437G>A (p.Arg146His) rs1201449653 0.00001
NM_002449.5(MSX2):c.452C>T (p.Thr151Ile) rs1760871886 0.00001
NM_002449.5(MSX2):c.501C>T (p.Leu167=) rs752218690 0.00001
NM_002449.5(MSX2):c.653C>T (p.Ser218Phe) rs760162567 0.00001
NM_002449.5(MSX2):c.698C>T (p.Ala233Val) rs138053303 0.00001
NM_002449.5(MSX2):c.726C>A (p.Phe242Leu) rs371825159 0.00001
NM_002449.5(MSX2):c.745A>G (p.Ile249Val) rs1760880294 0.00001
NM_002449.5(MSX2):c.750G>A (p.Pro250=) rs760404926 0.00001
NM_002449.5(MSX2):c.762C>G (p.Leu254=) rs560807345 0.00001
NM_002449.5(MSX2):c.770C>T (p.Thr257Met) rs752824647 0.00001
NM_002449.5(MSX2):c.771G>A (p.Thr257=) rs756385707 0.00001
NM_002449.5(MSX2):c.77C>T (p.Pro26Leu) rs745950729 0.00001
NM_002449.5(MSX2):c.798G>C (p.Leu266=) rs2480603888 0.00001
NM_002449.5(MSX2):c.83C>T (p.Pro28Leu) rs1361478485 0.00001
NC_000005.9:g.(?_174151663)_(174156586_?)dup
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*1086dup rs145784193
NM_002449.5(MSX2):c.127T>C (p.Ser43Pro) rs2480591815
NM_002449.5(MSX2):c.12G>A (p.Pro4=)
NM_002449.5(MSX2):c.143G>C (p.Ser48Thr) rs1760741097
NM_002449.5(MSX2):c.145G>C (p.Val49Leu)
NM_002449.5(MSX2):c.152C>T (p.Ala51Val) rs1344807799
NM_002449.5(MSX2):c.157A>C (p.Met53Leu) rs932163493
NM_002449.5(MSX2):c.163G>C (p.Asp55His) rs1050530108
NM_002449.5(MSX2):c.177C>T (p.Pro59=) rs2480592243
NM_002449.5(MSX2):c.179A>C (p.Lys60Thr) rs2113491774
NM_002449.5(MSX2):c.197C>G (p.Pro66Arg) rs527786984
NM_002449.5(MSX2):c.197C>T (p.Pro66Leu) rs527786984
NM_002449.5(MSX2):c.203A>G (p.Glu68Gly)
NM_002449.5(MSX2):c.217G>A (p.Gly73Arg)
NM_002449.5(MSX2):c.22A>C (p.Asn8His) rs1760735062
NM_002449.5(MSX2):c.235C>T (p.Leu79=) rs1760746212
NM_002449.5(MSX2):c.254del (p.Gly85fs) rs2480592535
NM_002449.5(MSX2):c.270C>G (p.His90Gln)
NM_002449.5(MSX2):c.282G>T (p.Pro94=)
NM_002449.5(MSX2):c.2T>C (p.Met1Thr) rs1321728260
NM_002449.5(MSX2):c.304G>C (p.Ala102Pro) rs772051040
NM_002449.5(MSX2):c.357C>G (p.Pro119=) rs756992471
NM_002449.5(MSX2):c.361C>G (p.Arg121Gly) rs745449870
NM_002449.5(MSX2):c.379+11G>A rs1373121328
NM_002449.5(MSX2):c.379+13C>T rs774294067
NM_002449.5(MSX2):c.379+8C>G rs1382294618
NM_002449.5(MSX2):c.380-14T>A
NM_002449.5(MSX2):c.380-16T>A rs1207193625
NM_002449.5(MSX2):c.380-17CT[3] rs1282197778
NM_002449.5(MSX2):c.380-18C>G rs200429446
NM_002449.5(MSX2):c.386T>G (p.Met129Arg)
NM_002449.5(MSX2):c.386_387inv (p.Met129Thr)
NM_002449.5(MSX2):c.427C>T (p.Arg143Trp)
NM_002449.5(MSX2):c.436C>T (p.Arg146Cys)
NM_002449.5(MSX2):c.43G>A (p.Glu15Lys) rs2480591343
NM_002449.5(MSX2):c.441G>A (p.Thr147=)
NM_002449.5(MSX2):c.442C>T (p.Pro148Ser) rs1581520079
NM_002449.5(MSX2):c.443C>A (p.Pro148His) rs104893895
NM_002449.5(MSX2):c.443C>T (p.Pro148Leu) rs104893895
NM_002449.5(MSX2):c.444C>T (p.Pro148=) rs200762790
NM_002449.5(MSX2):c.449C>G (p.Thr150Ser) rs2113498683
NM_002449.5(MSX2):c.457C>T (p.Gln153Ter) rs2113498696
NM_002449.5(MSX2):c.472G>T (p.Glu158Ter)
NM_002449.5(MSX2):c.474G>A (p.Glu158=) rs2480603100
NM_002449.5(MSX2):c.475C>T (p.Arg159Cys)
NM_002449.5(MSX2):c.479A>G (p.Lys160Arg) rs770204721
NM_002449.5(MSX2):c.501C>A (p.Leu167=)
NM_002449.5(MSX2):c.505A>G (p.Ile169Val) rs2113498787
NM_002449.5(MSX2):c.50G>T (p.Gly17Val) rs1760736162
NM_002449.5(MSX2):c.528C>T (p.Ser176=) rs2480603279
NM_002449.5(MSX2):c.572A>G (p.Gln191Arg) rs1760875161
NM_002449.5(MSX2):c.597A>G (p.Arg199=) rs2480603382
NM_002449.5(MSX2):c.613C>G (p.Leu205Val) rs111542301
NM_002449.5(MSX2):c.615G>A (p.Leu205=)
NM_002449.5(MSX2):c.643A>T (p.Met215Leu) rs577629417
NM_002449.5(MSX2):c.645G>A (p.Met215Ile) rs1297854733
NM_002449.5(MSX2):c.670T>C (p.Phe224Leu) rs747590116
NM_002449.5(MSX2):c.67G>A (p.Gly23Arg)
NM_002449.5(MSX2):c.686C>T (p.Pro229Leu) rs1287374727
NM_002449.5(MSX2):c.712G>A (p.Ala238Thr) rs1435910539
NM_002449.5(MSX2):c.73G>C (p.Gly25Arg) rs778800326
NM_002449.5(MSX2):c.760_780dup (p.Gly260_Tyr261insLeuTyrAlaThrProValGly)
NM_002449.5(MSX2):c.764A>G (p.Tyr255Cys) rs1227466459
NM_002449.5(MSX2):c.80G>A (p.Gly27Glu)
NM_021926.4(ALX4):c.*1346del rs544187857
NM_021926.4(ALX4):c.*424dup rs113592690
NM_021926.4(ALX4):c.*804AAG[1] rs149719812

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.