ClinVar Miner

List of variants reported as likely benign for autosomal recessive multiple pterygium syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_000751.3(CHRND):c.*1025A>G rs115132742
NM_000751.3(CHRND):c.*424C>T rs4973046
NM_000751.3(CHRND):c.*52A>G rs2767
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.*885T>C rs1004175
NM_000751.3(CHRND):c.1047+9T>C rs3762528
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_001039523.3(CHRNA1):c.*426C>A rs115375214
NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) rs2229957
NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) rs6739001
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*496A>G rs72991937
NM_005199.5(CHRNG):c.*568C>T rs72991939
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005199.5(CHRNG):c.*77T>C rs11690038
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080
NM_005199.5(CHRNG):c.507-13C>T rs2853462
NM_005199.5(CHRNG):c.921-12C>T rs13018423

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.