ClinVar Miner

List of variants studied for Lethal Kniest-like syndrome by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005529.7(HSPG2):c.4029+32T>A rs2501266 0.98281
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95612
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_005529.7(HSPG2):c.1507+38A>G rs4654994 0.90549
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77701
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76992
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.53133
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50711
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_005529.7(HSPG2):c.11352+25C>A rs2270701 0.18507
NM_005529.7(HSPG2):c.7294+25G>A rs2290500 0.17378
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.15361
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.14112
NM_005529.7(HSPG2):c.7446+34C>A rs6658388 0.13485
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.13433
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07048
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.06016
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05675
NM_005529.7(HSPG2):c.5575+31C>A rs12757277 0.05012
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_005529.7(HSPG2):c.6133+19T>C rs36080251 0.04039
NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=) rs34443576 0.04033
NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser) rs35669711 0.04032
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.04031
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478

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.