ClinVar Miner

List of variants studied for Dyskeratosis congenita, autosomal recessive, 3 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_001143992.2(WRAP53):c.-1-5T>C
NM_001143992.2(WRAP53):c.-1-5T>G
NM_001143992.2(WRAP53):c.-2+2T>C rs886053517
NM_001143992.2(WRAP53):c.-23C>G
NM_001143992.2(WRAP53):c.-52C>T rs79199718
NM_001143992.2(WRAP53):c.-62C>T
NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) rs138784430
NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr)
NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu)
NM_001143992.2(WRAP53):c.1269-13C>T rs371953585
NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161
NM_001143992.2(WRAP53):c.1403+6C>T rs886053518
NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) rs199522817
NM_001143992.2(WRAP53):c.1521C>T (p.His507=) rs146651237
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly)
NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) rs7640
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158
NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser)
NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) rs145760222
NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) rs764437508
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_001143992.2(WRAP53):c.330C>T (p.Asn110=)
NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) rs201340741
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256
NM_001143992.2(WRAP53):c.431+15C>T rs17880740
NM_001143992.2(WRAP53):c.432-15C>G
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526
NM_001143992.2(WRAP53):c.643-4A>G
NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) rs199901527
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405
NM_001143992.2(WRAP53):c.822+10G>A rs372606750
NM_001143992.2(WRAP53):c.823-10C>T rs117192546
NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) rs372166304
NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu)
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508
NM_001143992.2(WRAP53):c.956-14C>T
NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) rs758704444
NM_018081.2(WRAP53):c.-206G>A rs17551150
NM_018081.2(WRAP53):c.-245G>C rs17883670
NM_018081.2(WRAP53):c.-255G>A rs564330662

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.