ClinVar Miner

List of variants in gene C12orf57 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 118
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138425.3(C12orf57):c.-187G>C rs74057228 0.01538
NM_138425.3(C12orf57):c.-194A>G rs77181224 0.01050
NM_001301834.1(C12orf57):c.-16+70G>A rs73262861 0.00339
NC_000012.12:g.6946064G>C rs73262873 0.00301
NM_138425.4(C12orf57):c.-27C>T rs199968230 0.00240
NM_138425.4(C12orf57):c.86C>T (p.Ala29Val) rs139938808 0.00234
NM_138425.4(C12orf57):c.-3C>T rs113296395 0.00171
NM_138425.3(C12orf57):c.-191G>A rs782461569 0.00112
NM_138425.4(C12orf57):c.-28C>T rs185601401 0.00069
NM_138425.4(C12orf57):c.-4C>T rs377078607 0.00048
NM_138425.4(C12orf57):c.-7del rs781802135 0.00047
NM_138425.4(C12orf57):c.9C>T (p.Ser3=) rs200541396 0.00037
NM_138425.4(C12orf57):c.53-3C>T rs191711101 0.00026
NM_138425.4(C12orf57):c.99A>G (p.Ala33=) rs373481275 0.00026
NM_138425.4(C12orf57):c.52+12C>T rs782070416 0.00015
NM_138425.4(C12orf57):c.27G>A (p.Ala9=) rs781967024 0.00013
NM_138425.4(C12orf57):c.105C>T (p.Arg35=) rs782459108 0.00006
NM_138425.4(C12orf57):c.63G>A (p.Ala21=) rs369266431 0.00006
NM_138425.4(C12orf57):c.156A>G (p.Gln52=) rs782602511 0.00005
NM_138425.4(C12orf57):c.168C>G (p.Pro56=) rs143343192 0.00004
NM_138425.4(C12orf57):c.138C>T (p.Asp46=) rs782095567 0.00003
NM_138425.4(C12orf57):c.230-15C>T rs782454240 0.00003
NM_138425.4(C12orf57):c.53-7C>T rs1423184271 0.00003
NM_138425.4(C12orf57):c.230-19C>T rs782504921 0.00002
NM_138425.4(C12orf57):c.255C>G (p.Val85=) rs782376245 0.00002
NM_138425.4(C12orf57):c.363C>T (p.Gly121=) rs782694267 0.00002
NM_138425.4(C12orf57):c.45A>G (p.Gln15=) rs1315492454 0.00002
NM_138425.4(C12orf57):c.53-11C>T rs782510857 0.00002
NM_138425.4(C12orf57):c.53-18G>C rs1555145973 0.00002
NM_138425.4(C12orf57):c.111C>T (p.Asp37=) rs782432055 0.00001
NM_138425.4(C12orf57):c.163C>T (p.Leu55=) rs1281764287 0.00001
NM_138425.4(C12orf57):c.18C>G (p.Thr6=) rs771436737 0.00001
NM_138425.4(C12orf57):c.216C>T (p.Ser72=) rs921841674 0.00001
NM_138425.4(C12orf57):c.230-10C>T rs1177142890 0.00001
NM_138425.4(C12orf57):c.230-17T>C rs1162217718 0.00001
NM_138425.4(C12orf57):c.230-7C>T rs1800894153 0.00001
NM_138425.4(C12orf57):c.230-9C>T rs782686405 0.00001
NM_138425.4(C12orf57):c.231T>C (p.Gly77=) rs1945790519 0.00001
NM_138425.4(C12orf57):c.24G>A (p.Pro8=) rs782660573 0.00001
NM_138425.4(C12orf57):c.291C>T (p.Ser97=) rs782133839 0.00001
NM_138425.4(C12orf57):c.303G>A (p.Lys101=) rs782443019 0.00001
NM_138425.4(C12orf57):c.312G>A (p.Ala104=) rs140277271 0.00001
NM_138425.4(C12orf57):c.334C>T (p.Leu112=) rs1200757086 0.00001
NM_138425.4(C12orf57):c.36C>T (p.Ser12=) rs782750207 0.00001
NM_138425.4(C12orf57):c.375C>T (p.Ala125=) rs1945795988 0.00001
NM_138425.4(C12orf57):c.42G>A (p.Glu14=) rs782518073 0.00001
NM_138425.4(C12orf57):c.51G>A (p.Lys17=) rs782226329 0.00001
NM_138425.4(C12orf57):c.52+10G>A rs782548692 0.00001
NM_138425.4(C12orf57):c.52+14T>C rs1351667092 0.00001
NM_138425.4(C12orf57):c.52+16G>C rs372251126 0.00001
NM_138425.4(C12orf57):c.52+17T>G rs781977651 0.00001
NM_138425.4(C12orf57):c.52+19A>C rs1555145860 0.00001
NM_138425.4(C12orf57):c.52+7A>G rs1555145855 0.00001
NM_138425.4(C12orf57):c.78G>C (p.Ala26=) rs782763223 0.00001
NM_001301834.1(C12orf57):c.-16+151C>T rs142699589
NM_001301834.1(C12orf57):c.-16+82dup rs369359232
NM_001301834.1(C12orf57):c.-16+83G>T rs114309358
NM_138425.3(C12orf57):c.-226C>T rs112796044
NM_138425.3(C12orf57):c.-227C>T rs144953190
NM_138425.3(C12orf57):c.-241T>C rs191705180
NM_138425.4(C12orf57):c.-91_-75del rs1487900683
NM_138425.4(C12orf57):c.123T>C (p.Asp41=) rs962899716
NM_138425.4(C12orf57):c.12C>G (p.Ala4=) rs747313284
NM_138425.4(C12orf57):c.12C>T (p.Ala4=) rs747313284
NM_138425.4(C12orf57):c.147G>A (p.Lys49=) rs1555146039
NM_138425.4(C12orf57):c.15G>C (p.Ser5=) rs144652065
NM_138425.4(C12orf57):c.15G>T (p.Ser5=) rs144652065
NM_138425.4(C12orf57):c.168C>T (p.Pro56=)
NM_138425.4(C12orf57):c.177G>A (p.Thr59=) rs1591674806
NM_138425.4(C12orf57):c.192G>A (p.Glu64=) rs1555146059
NM_138425.4(C12orf57):c.195T>G (p.Val65=) rs1591674871
NM_138425.4(C12orf57):c.207T>C (p.Tyr69=)
NM_138425.4(C12orf57):c.213C>T (p.Phe71=) rs2542670852
NM_138425.4(C12orf57):c.21A>G (p.Gln7=) rs782266400
NM_138425.4(C12orf57):c.229+11C>G rs2542671146
NM_138425.4(C12orf57):c.229+19G>A
NM_138425.4(C12orf57):c.229+25_229+43del rs199730337
NM_138425.4(C12orf57):c.230-11C>T rs1555146476
NM_138425.4(C12orf57):c.230-16C>T rs782632383
NM_138425.4(C12orf57):c.230-9del rs782534827
NM_138425.4(C12orf57):c.261C>G (p.Ser87=) rs1218196491
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys) rs782145941
NM_138425.4(C12orf57):c.264C>T (p.Tyr88=)
NM_138425.4(C12orf57):c.279T>G (p.Pro93=) rs2542678803
NM_138425.4(C12orf57):c.294G>C (p.Leu98=) rs1555146501
NM_138425.4(C12orf57):c.309G>A (p.Lys103=)
NM_138425.4(C12orf57):c.30C>G (p.Ala10=) rs199643110
NM_138425.4(C12orf57):c.30C>T (p.Ala10=) rs199643110
NM_138425.4(C12orf57):c.319C>T (p.Leu107=) rs374912364
NM_138425.4(C12orf57):c.327C>T (p.Pro109=) rs1555146515
NM_138425.4(C12orf57):c.333C>T (p.Thr111=) rs1456146923
NM_138425.4(C12orf57):c.33G>A (p.Leu11=)
NM_138425.4(C12orf57):c.348G>A (p.Gly116=) rs2138242914
NM_138425.4(C12orf57):c.372C>T (p.Ala124=) rs1555146557
NM_138425.4(C12orf57):c.48A>G (p.Ala16=) rs782446700
NM_138425.4(C12orf57):c.52+12C>G rs782070416
NM_138425.4(C12orf57):c.52+13C>T rs1565574276
NM_138425.4(C12orf57):c.52+15A>T rs2138234227
NM_138425.4(C12orf57):c.52+17T>C rs781977651
NM_138425.4(C12orf57):c.52+18C>G rs375320005
NM_138425.4(C12orf57):c.52+18C>T rs375320005
NM_138425.4(C12orf57):c.52+25_52+26insGGGCTGCTGGCCTGGGGTAGTCAAGGCAT rs2542666971
NM_138425.4(C12orf57):c.52+26_52+54del rs781901992
NM_138425.4(C12orf57):c.52+9C>T rs2138234156
NM_138425.4(C12orf57):c.53-10T>C rs1685351657
NM_138425.4(C12orf57):c.53-12T>G
NM_138425.4(C12orf57):c.53-12_53-9dup rs2542669301
NM_138425.4(C12orf57):c.53-14C>G
NM_138425.4(C12orf57):c.53-15G>A rs782613612
NM_138425.4(C12orf57):c.53-23_53-11del rs2542669233
NM_138425.4(C12orf57):c.53-7C>A rs1423184271
NM_138425.4(C12orf57):c.53-8del rs1555145978
NM_138425.4(C12orf57):c.63G>C (p.Ala21=) rs369266431
NM_138425.4(C12orf57):c.63G>T (p.Ala21=) rs369266431
NM_138425.4(C12orf57):c.6G>T (p.Ala2=) rs2542666193
NM_138425.4(C12orf57):c.72C>T (p.Ile24=)
NM_138425.4(C12orf57):c.81C>T (p.Phe27=) rs781824392
NM_138425.4(C12orf57):c.93G>A (p.Glu31=) rs1945743828

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.