ClinVar Miner

List of variants reported for Short-rib thoracic dysplasia 6 with or without polydactyly by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_025129.5(FUZ):c.98_111+9del rs548706733 0.00010
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) rs769651861 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_015650.4(TRAF3IP1):c.988-1G>C rs372499275 0.00001
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) rs750338419 0.00001
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) rs759648976
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180

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.