ClinVar Miner

List of variants in gene NHP2 reported as uncertain significance for Dyskeratosis congenita

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_178149693)_(178153837_?)del
NC_000005.10:g.(?_178149693)_(178153837_?)dup
NM_001034833.1(NHP2):c.195_196AG[1] (p.Glu66fs) rs1333837047
NM_001034833.1(NHP2):c.231-1119_231-1116del rs754436041
NM_017838.3(NHP2):c.109C>T (p.Pro37Ser) rs201390429
NM_017838.3(NHP2):c.160+4A>C rs1419452406
NM_017838.3(NHP2):c.190G>A (p.Val64Met) rs79031130
NM_017838.3(NHP2):c.19G>C (p.Asp7His) rs1581138326
NM_017838.3(NHP2):c.230+3dup rs1581137979
NM_017838.3(NHP2):c.233T>A (p.Ile78Asn) rs1348885486
NM_017838.3(NHP2):c.237G>A (p.Met79Ile) rs1561644268
NM_017838.3(NHP2):c.289A>G (p.Met97Val) rs372840247
NM_017838.3(NHP2):c.290T>C (p.Met97Thr) rs147530082
NM_017838.3(NHP2):c.67A>G (p.Thr23Ala) rs1196159721
NM_017838.4(NHP2):c.106dup (p.Gln36fs)
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp)
NM_017838.4(NHP2):c.122_129del (p.Arg41fs)
NM_017838.4(NHP2):c.163G>A (p.Val55Met)
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn)
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)
NM_017838.4(NHP2):c.335C>T (p.Thr112Met)
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)

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.