ClinVar Miner

List of variants in gene CC2D1A reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1521C>T (p.Ala507=) rs35337537 0.00471
NM_017721.5(CC2D1A):c.698C>T (p.Ala233Val) rs181548764 0.00309
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801 0.00283
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.1449C>G (p.Pro483=) rs201221633 0.00197
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667 0.00180
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_017721.5(CC2D1A):c.1723C>T (p.Arg575Cys) rs61748827 0.00096
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.1399C>G (p.Pro467Ala) rs199717745 0.00060
NM_017721.5(CC2D1A):c.636C>A (p.Thr212=) rs372760536 0.00036
NM_017721.5(CC2D1A):c.1751G>A (p.Arg584Gln) rs34204315 0.00029
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017721.5(CC2D1A):c.1293T>C (p.Thr431=) rs756303755 0.00022
NM_017721.5(CC2D1A):c.2027G>T (p.Gly676Val) rs201844043 0.00017
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr) rs201374643 0.00016
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln) rs765282375 0.00013
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_017721.5(CC2D1A):c.627T>C (p.Pro209=) rs753037271 0.00007
NM_017721.5(CC2D1A):c.2070C>T (p.Asn690=) rs752747668 0.00006
NM_017721.5(CC2D1A):c.2511A>G (p.Ser837=) rs768200819 0.00006
NM_017721.5(CC2D1A):c.2728G>A (p.Glu910Lys) rs767908962 0.00005
NM_017721.5(CC2D1A):c.713C>T (p.Ser238Leu) rs770891005 0.00005
NM_017721.5(CC2D1A):c.2115A>C (p.Thr705=) rs772349420 0.00004
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His) rs576457697 0.00003
NM_017721.5(CC2D1A):c.315G>A (p.Ala105=) rs199500012 0.00003
NM_017721.5(CC2D1A):c.168C>T (p.Pro56=) rs202235933 0.00002
NM_017721.5(CC2D1A):c.1140C>T (p.Arg380=) rs779831737 0.00001
NM_017721.5(CC2D1A):c.1362C>T (p.Asn454=) rs758835584 0.00001
NM_017721.5(CC2D1A):c.55C>T (p.Arg19Cys) rs775951098 0.00001
NM_017721.5(CC2D1A):c.1004C>T (p.Ala335Val)
NM_017721.5(CC2D1A):c.1191C>G (p.Ala397=)
NM_017721.5(CC2D1A):c.121G>A (p.Asp41Asn)
NM_017721.5(CC2D1A):c.1266G>A (p.Gln422=) rs905865043
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_017721.5(CC2D1A):c.1454C>G (p.Ala485Gly)
NM_017721.5(CC2D1A):c.1839G>A (p.Ala613=)
NM_017721.5(CC2D1A):c.1898C>T (p.Thr633Met)
NM_017721.5(CC2D1A):c.1933G>A (p.Val645Ile)
NM_017721.5(CC2D1A):c.2029G>A (p.Asp677Asn)
NM_017721.5(CC2D1A):c.2065C>A (p.Pro689Thr)
NM_017721.5(CC2D1A):c.2069A>G (p.Asn690Ser)
NM_017721.5(CC2D1A):c.2340A>G (p.Thr780=)
NM_017721.5(CC2D1A):c.2480C>T (p.Ala827Val)
NM_017721.5(CC2D1A):c.24G>A (p.Pro8=)
NM_017721.5(CC2D1A):c.251C>T (p.Pro84Leu)
NM_017721.5(CC2D1A):c.2520A>G (p.Arg840=)
NM_017721.5(CC2D1A):c.2656C>T (p.Arg886Cys)
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
NM_017721.5(CC2D1A):c.2774A>G (p.Asn925Ser)
NM_017721.5(CC2D1A):c.2805G>A (p.Ala935=)
NM_017721.5(CC2D1A):c.2815C>T (p.Arg939Trp)
NM_017721.5(CC2D1A):c.2848C>T (p.Arg950Cys)
NM_017721.5(CC2D1A):c.2849G>A (p.Arg950His)
NM_017721.5(CC2D1A):c.379C>T (p.Pro127Ser)
NM_017721.5(CC2D1A):c.381G>A (p.Pro127=)
NM_017721.5(CC2D1A):c.435G>A (p.Ala145=)
NM_017721.5(CC2D1A):c.503G>A (p.Arg168Gln)
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.562G>C (p.Glu188Gln)
NM_017721.5(CC2D1A):c.590T>G (p.Ile197Arg)
NM_017721.5(CC2D1A):c.642G>A (p.Pro214=)
NM_017721.5(CC2D1A):c.682C>T (p.Leu228=)
NM_017721.5(CC2D1A):c.739A>C (p.Met247Leu)
NM_017721.5(CC2D1A):c.902G>A (p.Ser301Asn)
NM_017721.5(CC2D1A):c.915C>T (p.Pro305=)
NM_017721.5(CC2D1A):c.990G>A (p.Pro330=)

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.