ClinVar Miner

List of variants in gene CC2D1A reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1281T>C (p.Gly427=) rs10410239 0.38118
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_017721.5(CC2D1A):c.252G>A (p.Pro84=) rs7250180 0.09465
NM_017721.5(CC2D1A):c.1015A>C (p.Thr339Pro) rs11883041 0.06417
NM_017721.5(CC2D1A):c.1634T>C (p.Ile545Thr) rs75601897 0.00770
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val) rs61740117 0.00691
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_017721.5(CC2D1A):c.1974C>T (p.Leu658=) rs147905122 0.00526
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404 0.00279
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_017721.5(CC2D1A):c.1449C>G (p.Pro483=) rs201221633 0.00197
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667 0.00180
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_017721.5(CC2D1A):c.2125+18G>A rs201665826 0.00093
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_017721.5(CC2D1A):c.1401C>T (p.Pro467=) rs200063565 0.00061
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_017721.5(CC2D1A):c.1549G>A (p.Val517Met) rs200797532 0.00025
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr) rs201374643 0.00016
NM_017721.5(CC2D1A):c.705C>T (p.Ala235=) rs376336714 0.00014
NM_017721.5(CC2D1A):c.60+10C>A rs769120532 0.00013
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln) rs765282375 0.00013
NM_017721.5(CC2D1A):c.2731C>G (p.Arg911Gly) rs200848845 0.00011
NM_017721.5(CC2D1A):c.1545C>T (p.Asn515=) rs370475551 0.00007
NM_017721.5(CC2D1A):c.2441C>T (p.Ala814Val) rs779644080 0.00006
NM_017721.5(CC2D1A):c.2728G>A (p.Glu910Lys) rs767908962 0.00005
NM_017721.5(CC2D1A):c.2115A>C (p.Thr705=) rs772349420 0.00004
NM_017721.5(CC2D1A):c.197-5G>A rs373157979 0.00003
NM_017721.5(CC2D1A):c.1379C>T (p.Thr460Ile) rs747475649 0.00001
NM_017721.5(CC2D1A):c.1388C>T (p.Pro463Leu) rs369094911 0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val) rs529368098 0.00001
NM_017721.5(CC2D1A):c.1838C>T (p.Ala613Val) rs368857635 0.00001
NM_017721.5(CC2D1A):c.1936A>G (p.Ile646Val) rs1488460376 0.00001
NM_017721.5(CC2D1A):c.1941-6C>T rs773170502 0.00001
NM_017721.5(CC2D1A):c.1996A>G (p.Asn666Asp) rs747760233 0.00001
NM_017721.5(CC2D1A):c.2377C>A (p.Pro793Thr) rs760711609 0.00001
NM_017721.5(CC2D1A):c.1001C>T (p.Thr334Met) rs756554308
NM_017721.5(CC2D1A):c.1561A>G (p.Lys521Glu) rs797045435
NM_017721.5(CC2D1A):c.2073+7G>A rs539992718
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.250C>T (p.Pro84Ser) rs797045436
NM_017721.5(CC2D1A):c.464_484dup (p.Arg155_Ala161dup) rs771412521
NM_017721.5(CC2D1A):c.513+6_513+12del rs541952457
NM_017721.5(CC2D1A):c.531C>T (p.Leu177=) rs372771537
NM_017721.5(CC2D1A):c.657G>C (p.Ala219=) rs367628101
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840
NM_017721.5(CC2D1A):c.946+6A>G rs1555733804

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.