ClinVar Miner

List of variants studied for KBG syndrome by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser) rs773172347 0.00011
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser) rs570483616 0.00008
NM_013275.6(ANKRD11):c.7103G>A (p.Arg2368Lys) rs1018954790 0.00004
NM_013275.6(ANKRD11):c.6361G>A (p.Ala2121Thr) rs769555121 0.00003
NM_013275.6(ANKRD11):c.3454A>G (p.Lys1152Glu) rs764756309 0.00001
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.196G>A (p.Ala66Thr) rs949172972
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala) rs1597462279
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2184CAG[1] (p.Ser729del) rs2034496534
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2426G>C (p.Arg809Thr) rs79174195
NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs) rs2034450158
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3127C>A (p.Leu1043Met) rs1261967882
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter) rs2034378960
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) rs1555528354
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln) rs1276607391
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.4271C>T (p.Ser1424Phe) rs1567569737
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)
NM_013275.6(ANKRD11):c.4553C>G (p.Ser1518Cys) rs1298767812
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter) rs1298649064
NM_013275.6(ANKRD11):c.521G>T (p.Arg174Leu) rs1258661652
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)
NM_013275.6(ANKRD11):c.5543C>T (p.Pro1848Leu) rs1208038234
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter) rs2034182420
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter) rs1555526636
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter) rs2151742685
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs) rs1597443966
NM_013275.6(ANKRD11):c.6206G>A (p.Cys2069Tyr) rs763657561
NM_013275.6(ANKRD11):c.6224C>G (p.Ala2075Gly) rs2034085077
NM_013275.6(ANKRD11):c.6694C>A (p.Arg2232Ser) rs760007187
NM_013275.6(ANKRD11):c.6823G>T (p.Ala2275Ser) rs750990942
NM_013275.6(ANKRD11):c.6860G>C (p.Gly2287Ala) rs2033999753
NM_013275.6(ANKRD11):c.6874G>A (p.Asp2292Asn) rs2033997441
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter) rs572878194
NM_013275.6(ANKRD11):c.77C>G (p.Thr26Ser) rs2036996668
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.87+13C>T rs201730053
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835
NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)

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.