ClinVar Miner

List of variants in gene OBSCN reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386125.1(OBSCN):c.8610C>G (p.Thr2870=) rs185248802 0.00977
NM_001386125.1(OBSCN):c.19980T>A (p.Ser6660Arg) rs144372515 0.00796
NM_001386125.1(OBSCN):c.7450T>C (p.Trp2484Arg) rs62621832 0.00725
NM_001386125.1(OBSCN):c.20169C>T (p.Asp6723=) rs142093978 0.00531
NM_001386125.1(OBSCN):c.8633T>C (p.Val2878Ala) rs200720682 0.00526
NM_001386125.1(OBSCN):c.5262C>T (p.Asp1754=) rs142188902 0.00434
NM_001386125.1(OBSCN):c.1176C>T (p.Arg392=) rs185717159 0.00405
NM_001386125.1(OBSCN):c.20528A>G (p.Tyr6843Cys) rs200385051 0.00398
NM_001386125.1(OBSCN):c.25748C>T (p.Thr8583Met) rs184394044 0.00364
NM_001386125.1(OBSCN):c.21533-1917G>A rs141233508 0.00326
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00322
NM_001386125.1(OBSCN):c.4490G>A (p.Arg1497Gln) rs199874295 0.00291
NM_001386125.1(OBSCN):c.11031G>A (p.Pro3677=) rs79290523 0.00256
NM_001386125.1(OBSCN):c.9957C>T (p.Leu3319=) rs114058903 0.00212
NM_001386125.1(OBSCN):c.2342G>A (p.Arg781His) rs144514297 0.00208
NM_001386125.1(OBSCN):c.11457C>T (p.Pro3819=) rs56367754 0.00201
NM_001386125.1(OBSCN):c.21214C>G (p.Arg7072Gly) rs142615706 0.00172
NM_001386125.1(OBSCN):c.15509G>A (p.Arg5170His) rs56306215 0.00140
NM_001386125.1(OBSCN):c.23449G>A (p.Ala7817Thr) rs370128535 0.00130
NM_001386125.1(OBSCN):c.727G>C (p.Gly243Arg) rs199979779 0.00130
NM_001386125.1(OBSCN):c.3546C>T (p.Ala1182=) rs147753732 0.00121
NM_001386125.1(OBSCN):c.3288C>T (p.Cys1096=) rs373806868 0.00120
NM_001386125.1(OBSCN):c.4393G>A (p.Glu1465Lys) rs201854668 0.00116
NM_001386125.1(OBSCN):c.11853C>T (p.Cys3951=) rs200826459 0.00114
NM_001386125.1(OBSCN):c.19460T>C (p.Val6487Ala) rs200706907 0.00107
NM_001386125.1(OBSCN):c.24417C>T (p.Arg8139=) rs499309 0.00105
NM_001386125.1(OBSCN):c.16425C>T (p.Thr5475=) rs373494343 0.00102
NM_001386125.1(OBSCN):c.21533-1989T>A rs192205562 0.00097
NM_001386125.1(OBSCN):c.6662C>T (p.Thr2221Met) rs200976664 0.00095
NM_001386125.1(OBSCN):c.21303C>T (p.Asp7101=) rs56187628 0.00092
NM_001386125.1(OBSCN):c.18705C>A (p.Ala6235=) rs56025664 0.00089
NM_001386125.1(OBSCN):c.16853A>C (p.Glu5618Ala) rs200399314 0.00076
NM_001386125.1(OBSCN):c.9711C>G (p.Val3237=) rs183888195 0.00073
NM_001386125.1(OBSCN):c.9065A>G (p.Asn3022Ser) rs113202278 0.00072
NM_001386125.1(OBSCN):c.9040G>C (p.Asp3014His) rs202052558 0.00056
NM_001386125.1(OBSCN):c.14674C>T (p.Arg4892Trp) rs200812111 0.00054
NM_001386125.1(OBSCN):c.24984A>G (p.Ser8328=) rs370699889 0.00046
NM_001386125.1(OBSCN):c.8952G>A (p.Ala2984=) rs200898281 0.00046
NM_001386125.1(OBSCN):c.3684G>A (p.Ala1228=) rs368607358 0.00037
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val) rs191098985 0.00032
NM_001386125.1(OBSCN):c.10654G>A (p.Asp3552Asn) rs201332233 0.00028
NM_001386125.1(OBSCN):c.10115C>T (p.Ala3372Val) rs199933567 0.00026
NM_001386125.1(OBSCN):c.12420C>T (p.Ala4140=) rs199641194 0.00024
NM_001386125.1(OBSCN):c.20021G>A (p.Ser6674Asn) rs376194851 0.00019
NM_001386125.1(OBSCN):c.12345C>T (p.Leu4115=) rs527943941 0.00018
NM_001386125.1(OBSCN):c.16503A>G (p.Ala5501=) rs370547153 0.00016
NM_001386125.1(OBSCN):c.7896C>T (p.Ile2632=) rs372936044 0.00014
NM_001386125.1(OBSCN):c.3185C>T (p.Ser1062Phe) rs200058427 0.00013
NM_001386125.1(OBSCN):c.4668C>T (p.Cys1556=) rs754957194 0.00008
NM_001386125.1(OBSCN):c.7122G>A (p.Val2374=) rs370744845 0.00006
NM_001386125.1(OBSCN):c.21533-2388G>A rs770341667 0.00004
NM_001386125.1(OBSCN):c.18006C>T (p.Pro6002=) rs534386095 0.00002
NM_001386125.1(OBSCN):c.10407G>A (p.Leu3469=)
NM_001386125.1(OBSCN):c.10633G>A (p.Val3545Met)
NM_001386125.1(OBSCN):c.10658T>C (p.Ile3553Thr)
NM_001386125.1(OBSCN):c.10689C>G (p.Thr3563=)
NM_001386125.1(OBSCN):c.11034G>C (p.Gln3678His)
NM_001386125.1(OBSCN):c.11362C>A (p.Pro3788Thr)
NM_001386125.1(OBSCN):c.11670C>T (p.Ala3890=)
NM_001386125.1(OBSCN):c.11986G>C (p.Val3996Leu) rs78661188
NM_001386125.1(OBSCN):c.12126G>C (p.Glu4042Asp)
NM_001386125.1(OBSCN):c.12234G>A (p.Leu4078=)
NM_001386125.1(OBSCN):c.12338G>A (p.Arg4113His)
NM_001386125.1(OBSCN):c.12783G>C (p.Glu4261Asp)
NM_001386125.1(OBSCN):c.12792G>A (p.Lys4264=)
NM_001386125.1(OBSCN):c.12831G>C (p.Leu4277=)
NM_001386125.1(OBSCN):c.13564G>A (p.Ala4522Thr)
NM_001386125.1(OBSCN):c.13569C>T (p.Pro4523=)
NM_001386125.1(OBSCN):c.14124C>T (p.Thr4708=)
NM_001386125.1(OBSCN):c.14223C>T (p.Cys4741=)
NM_001386125.1(OBSCN):c.14224G>A (p.Val4742Met)
NM_001386125.1(OBSCN):c.14258C>T (p.Thr4753Met)
NM_001386125.1(OBSCN):c.14325G>A (p.Thr4775=)
NM_001386125.1(OBSCN):c.1447T>C (p.Cys483Arg)
NM_001386125.1(OBSCN):c.14809C>T (p.Arg4937Trp)
NM_001386125.1(OBSCN):c.14934T>C (p.Cys4978=)
NM_001386125.1(OBSCN):c.15165C>T (p.Ala5055=)
NM_001386125.1(OBSCN):c.15282C>T (p.Gly5094=)
NM_001386125.1(OBSCN):c.15549C>T (p.Asp5183=)
NM_001386125.1(OBSCN):c.15852G>A (p.Thr5284=) rs370387618
NM_001386125.1(OBSCN):c.16002C>T (p.Asp5334=)
NM_001386125.1(OBSCN):c.16116G>C (p.Leu5372=)
NM_001386125.1(OBSCN):c.16339G>A (p.Ala5447Thr)
NM_001386125.1(OBSCN):c.16544G>A (p.Arg5515His)
NM_001386125.1(OBSCN):c.1692C>T (p.His564=)
NM_001386125.1(OBSCN):c.16982C>T (p.Pro5661Leu)
NM_001386125.1(OBSCN):c.17235G>A (p.Thr5745=)
NM_001386125.1(OBSCN):c.1725C>G (p.Thr575=)
NM_001386125.1(OBSCN):c.17438G>A (p.Arg5813His)
NM_001386125.1(OBSCN):c.17537G>A (p.Arg5846Gln)
NM_001386125.1(OBSCN):c.17696G>A (p.Arg5899Gln)
NM_001386125.1(OBSCN):c.17759G>A (p.Arg5920His)
NM_001386125.1(OBSCN):c.17917C>T (p.Arg5973Trp)
NM_001386125.1(OBSCN):c.17926C>T (p.Arg5976Cys)
NM_001386125.1(OBSCN):c.17956GAG[1] (p.Glu5987del)
NM_001386125.1(OBSCN):c.18009G>A (p.Ala6003=)
NM_001386125.1(OBSCN):c.18010G>T (p.Asp6004Tyr)
NM_001386125.1(OBSCN):c.18021A>G (p.Thr6007=)
NM_001386125.1(OBSCN):c.18199G>T (p.Val6067Leu)
NM_001386125.1(OBSCN):c.18240C>T (p.Asp6080=)
NM_001386125.1(OBSCN):c.18456C>T (p.Gly6152=)
NM_001386125.1(OBSCN):c.18561G>A (p.Thr6187=)
NM_001386125.1(OBSCN):c.19078C>T (p.His6360Tyr)
NM_001386125.1(OBSCN):c.19208C>T (p.Thr6403Ile)
NM_001386125.1(OBSCN):c.19271C>T (p.Ser6424Leu)
NM_001386125.1(OBSCN):c.19394G>T (p.Gly6465Val)
NM_001386125.1(OBSCN):c.19542G>A (p.Gln6514=)
NM_001386125.1(OBSCN):c.19557C>T (p.Asp6519=)
NM_001386125.1(OBSCN):c.19661C>G (p.Ala6554Gly)
NM_001386125.1(OBSCN):c.20016G>A (p.Leu6672=)
NM_001386125.1(OBSCN):c.20055C>A (p.His6685Gln)
NM_001386125.1(OBSCN):c.20167G>A (p.Asp6723Asn)
NM_001386125.1(OBSCN):c.20294C>T (p.Ala6765Val)
NM_001386125.1(OBSCN):c.21123G>A (p.Gln7041=)
NM_001386125.1(OBSCN):c.21243C>T (p.Asp7081=)
NM_001386125.1(OBSCN):c.21291-40G>T
NM_001386125.1(OBSCN):c.2143G>A (p.Glu715Lys)
NM_001386125.1(OBSCN):c.21456G>A (p.Ala7152=)
NM_001386125.1(OBSCN):c.21532+3106A>G
NM_001386125.1(OBSCN):c.21533-1902C>T
NM_001386125.1(OBSCN):c.21533-2508C>T
NM_001386125.1(OBSCN):c.21533-2517A>T
NM_001386125.1(OBSCN):c.21533-2661G>A
NM_001386125.1(OBSCN):c.21533-2783C>G
NM_001386125.1(OBSCN):c.21533-2835T>G
NM_001386125.1(OBSCN):c.21533-320G>T
NM_001386125.1(OBSCN):c.21533-355dup
NM_001386125.1(OBSCN):c.21551C>G (p.Ala7184Gly)
NM_001386125.1(OBSCN):c.21600G>A (p.Ala7200=)
NM_001386125.1(OBSCN):c.21693C>T (p.Thr7231=)
NM_001386125.1(OBSCN):c.21747C>T (p.His7249=)
NM_001386125.1(OBSCN):c.21906A>T (p.Thr7302=)
NM_001386125.1(OBSCN):c.21924G>A (p.Thr7308=)
NM_001386125.1(OBSCN):c.21934+4C>T
NM_001386125.1(OBSCN):c.21999C>T (p.Phe7333=)
NM_001386125.1(OBSCN):c.22353C>T (p.Cys7451=)
NM_001386125.1(OBSCN):c.22472G>C (p.Arg7491Pro)
NM_001386125.1(OBSCN):c.22617C>T (p.Gly7539=)
NM_001386125.1(OBSCN):c.22761C>T (p.Val7587=)
NM_001386125.1(OBSCN):c.2279G>A (p.Arg760Gln)
NM_001386125.1(OBSCN):c.22908C>T (p.Arg7636=)
NM_001386125.1(OBSCN):c.22951G>A (p.Ala7651Thr)
NM_001386125.1(OBSCN):c.22974G>A (p.Thr7658=)
NM_001386125.1(OBSCN):c.23076C>T (p.Thr7692=)
NM_001386125.1(OBSCN):c.2309G>A (p.Arg770Gln)
NM_001386125.1(OBSCN):c.23102G>A (p.Arg7701Gln)
NM_001386125.1(OBSCN):c.23241C>T (p.Ser7747=)
NM_001386125.1(OBSCN):c.23281G>C (p.Ala7761Pro)
NM_001386125.1(OBSCN):c.23317C>T (p.His7773Tyr)
NM_001386125.1(OBSCN):c.23344T>G (p.Phe7782Val)
NM_001386125.1(OBSCN):c.23385_23386del (p.Ala7795_Ser7796insTer)
NM_001386125.1(OBSCN):c.23436C>T (p.Ala7812=)
NM_001386125.1(OBSCN):c.23616C>A (p.Arg7872=)
NM_001386125.1(OBSCN):c.23661G>C (p.Arg7887Ser)
NM_001386125.1(OBSCN):c.23668C>T (p.Gln7890Ter) rs1574014043
NM_001386125.1(OBSCN):c.23713C>T (p.Arg7905Trp) rs781573745
NM_001386125.1(OBSCN):c.23838del (p.Ser7947fs)
NM_001386125.1(OBSCN):c.23842G>A (p.Gly7948Arg)
NM_001386125.1(OBSCN):c.23883dup (p.Lys7962fs)
NM_001386125.1(OBSCN):c.24046G>A (p.Gly8016Ser)
NM_001386125.1(OBSCN):c.24080C>T (p.Pro8027Leu)
NM_001386125.1(OBSCN):c.24112C>A (p.Pro8038Thr)
NM_001386125.1(OBSCN):c.24415C>T (p.Arg8139Cys)
NM_001386125.1(OBSCN):c.2442G>A (p.Pro814=)
NM_001386125.1(OBSCN):c.2444C>T (p.Ala815Val)
NM_001386125.1(OBSCN):c.24621T>C (p.Ser8207=)
NM_001386125.1(OBSCN):c.24709G>A (p.Val8237Met)
NM_001386125.1(OBSCN):c.2473C>T (p.His825Tyr)
NM_001386125.1(OBSCN):c.24783C>T (p.Pro8261=)
NM_001386125.1(OBSCN):c.2482G>T (p.Val828Leu)
NM_001386125.1(OBSCN):c.24909C>T (p.Ala8303=)
NM_001386125.1(OBSCN):c.25171G>A (p.Glu8391Lys)
NM_001386125.1(OBSCN):c.25174+1G>A
NM_001386125.1(OBSCN):c.25329G>A (p.Val8443=)
NM_001386125.1(OBSCN):c.25367-1G>C
NM_001386125.1(OBSCN):c.25519G>A (p.Val8507Ile)
NM_001386125.1(OBSCN):c.25546T>C (p.Ser8516Pro)
NM_001386125.1(OBSCN):c.25566C>T (p.Ile8522=)
NM_001386125.1(OBSCN):c.2556G>T (p.Arg852=)
NM_001386125.1(OBSCN):c.25581G>A (p.Ala8527=)
NM_001386125.1(OBSCN):c.25620C>T (p.Tyr8540=)
NM_001386125.1(OBSCN):c.25722C>T (p.Ser8574=)
NM_001386125.1(OBSCN):c.25852C>T (p.Arg8618Trp)
NM_001386125.1(OBSCN):c.25953C>T (p.Ser8651=)
NM_001386125.1(OBSCN):c.25954G>A (p.Gly8652Arg)
NM_001386125.1(OBSCN):c.26015G>A (p.Arg8672His)
NM_001386125.1(OBSCN):c.26022C>T (p.Tyr8674=)
NM_001386125.1(OBSCN):c.26170G>A (p.Glu8724Lys)
NM_001386125.1(OBSCN):c.2639G>A (p.Arg880Gln)
NM_001386125.1(OBSCN):c.3074G>A (p.Ser1025Asn)
NM_001386125.1(OBSCN):c.3282G>C (p.Leu1094=)
NM_001386125.1(OBSCN):c.3438C>T (p.Cys1146=)
NM_001386125.1(OBSCN):c.3540G>A (p.Ala1180=)
NM_001386125.1(OBSCN):c.3585G>A (p.Thr1195=)
NM_001386125.1(OBSCN):c.3702G>A (p.Gly1234=)
NM_001386125.1(OBSCN):c.386T>A (p.Phe129Tyr)
NM_001386125.1(OBSCN):c.3870G>A (p.Thr1290=)
NM_001386125.1(OBSCN):c.387C>A (p.Phe129Leu)
NM_001386125.1(OBSCN):c.4172G>C (p.Ser1391Thr)
NM_001386125.1(OBSCN):c.4362C>T (p.Ala1454=)
NM_001386125.1(OBSCN):c.449T>G (p.Leu150Arg)
NM_001386125.1(OBSCN):c.4818C>T (p.Cys1606=)
NM_001386125.1(OBSCN):c.4872G>A (p.Ala1624=)
NM_001386125.1(OBSCN):c.496G>A (p.Ala166Thr)
NM_001386125.1(OBSCN):c.509G>C (p.Arg170Pro)
NM_001386125.1(OBSCN):c.5123G>A (p.Arg1708His)
NM_001386125.1(OBSCN):c.531C>T (p.Arg177=)
NM_001386125.1(OBSCN):c.5355C>T (p.Ala1785=)
NM_001386125.1(OBSCN):c.5472G>A (p.Ala1824=)
NM_001386125.1(OBSCN):c.5734G>C (p.Asp1912His)
NM_001386125.1(OBSCN):c.6109G>A (p.Asp2037Asn)
NM_001386125.1(OBSCN):c.6111C>G (p.Asp2037Glu)
NM_001386125.1(OBSCN):c.6253C>T (p.His2085Tyr)
NM_001386125.1(OBSCN):c.6296G>A (p.Arg2099His)
NM_001386125.1(OBSCN):c.651C>A (p.Ala217=)
NM_001386125.1(OBSCN):c.7019C>T (p.Ala2340Val)
NM_001386125.1(OBSCN):c.7206G>A (p.Leu2402=)
NM_001386125.1(OBSCN):c.7298G>T (p.Gly2433Val)
NM_001386125.1(OBSCN):c.7530C>T (p.Leu2510=)
NM_001386125.1(OBSCN):c.7612G>C (p.Glu2538Gln)
NM_001386125.1(OBSCN):c.7633C>T (p.Arg2545Cys)
NM_001386125.1(OBSCN):c.7743G>A (p.Arg2581=)
NM_001386125.1(OBSCN):c.7806C>T (p.Cys2602=)
NM_001386125.1(OBSCN):c.7839T>C (p.Asp2613=)
NM_001386125.1(OBSCN):c.8103T>G (p.Phe2701Leu)
NM_001386125.1(OBSCN):c.8414A>G (p.Glu2805Gly)
NM_001386125.1(OBSCN):c.847C>A (p.Arg283Ser)
NM_001386125.1(OBSCN):c.8556G>A (p.Gly2852=)
NM_001386125.1(OBSCN):c.8805G>A (p.Thr2935=)
NM_001386125.1(OBSCN):c.8850G>A (p.Gln2950=)
NM_001386125.1(OBSCN):c.8997G>A (p.Thr2999=)
NM_001386125.1(OBSCN):c.9336C>T (p.Gly3112=)
NM_001386125.1(OBSCN):c.9434_9438del (p.Tyr3145fs)
NM_001386125.1(OBSCN):c.9677G>A (p.Arg3226Gln)
NM_001386125.1(OBSCN):c.9712T>G (p.Phe3238Val)
NM_001386125.1(OBSCN):c.989-7C>G

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.