ClinVar Miner

List of variants studied for Goldberg-Shprintzen syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015634.4(KIFBP):c.*422A>C rs6864 0.42385
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021 0.05950
NM_015634.4(KIFBP):c.*415C>T rs1058645 0.05632
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997 0.04974
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_015634.4(KIFBP):c.1326A>G (p.Arg442=) rs143815412 0.00110
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344 0.00059
NM_015634.4(KIFBP):c.1399C>T (p.Leu467=) rs142011043 0.00058
NM_015634.4(KIFBP):c.*451T>C rs968407883 0.00042
NM_015634.4(KIFBP):c.48G>T (p.Ala16=) rs201777829 0.00041
NM_015634.4(KIFBP):c.*20G>A rs201287646 0.00022
NM_015634.4(KIFBP):c.963C>T (p.Leu321=) rs201076497 0.00014
NM_015634.4(KIFBP):c.116C>G (p.Ala39Gly) rs372223602 0.00011
NM_015634.4(KIFBP):c.*523C>T rs980209545 0.00008
NM_015634.4(KIFBP):c.1615G>A (p.Val539Ile) rs561448573 0.00006
NM_015634.4(KIFBP):c.*133G>C rs149549024 0.00004
NM_015634.4(KIFBP):c.1325G>C (p.Arg442Thr) rs764557349 0.00004
NM_015634.4(KIFBP):c.1768G>A (p.Ala590Thr) rs374731910 0.00004
NM_015634.4(KIFBP):c.322A>G (p.Thr108Ala) rs768592975 0.00004
NM_015634.4(KIFBP):c.781A>G (p.Ile261Val) rs749110699 0.00004
NM_015634.4(KIFBP):c.1848C>A (p.Thr616=) rs371537907 0.00003
NM_015634.4(KIFBP):c.66G>A (p.Val22=) rs368452753 0.00003
NM_015634.4(KIFBP):c.990+11C>T rs570851893 0.00003
NM_015634.4(KIFBP):c.121G>C (p.Ala41Pro) rs757781374 0.00002
NM_015634.4(KIFBP):c.60G>C (p.Ser20=) rs773495989 0.00002
NM_015634.4(KIFBP):c.718G>A (p.Glu240Lys) rs547582634 0.00002
NM_015634.4(KIFBP):c.858C>T (p.Ile286=) rs757772205 0.00001
NM_015634.4(KIFBP):c.*233C>G rs1359347457
NM_015634.4(KIFBP):c.*271T>C rs1839011438
NM_015634.4(KIFBP):c.*306A>G rs906078001
NM_015634.4(KIFBP):c.*39T>A rs756615646
NM_015634.4(KIFBP):c.*486G>A rs752736908
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_015634.4(KIFBP):c.1373C>T (p.Thr458Ile) rs1457900956
NM_015634.4(KIFBP):c.1666A>C (p.Lys556Gln) rs1839004363
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607
NM_015634.4(KIFBP):c.202G>C (p.Gly68Arg) rs201068859
NM_015634.4(KIFBP):c.301C>T (p.Leu101Phe) rs1339934594
NM_015634.4(KIFBP):c.318C>T (p.Ile106=) rs1248105995
NM_015634.4(KIFBP):c.875-10T>C rs1843582622

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.