ClinVar Miner

List of variants reported as uncertain significance for Chondrodysplasia by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NM_000316.3(PTH1R):c.-166G>A rs886058583
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872
NM_000557.5(GDF5):c.*166G>A rs569761315
NM_000557.5(GDF5):c.-220C>T rs886056643
NM_000557.5(GDF5):c.-30C>A rs375024998
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_017813.5(IMPAD1):c.*1018T>C rs559826487
NM_017813.5(IMPAD1):c.*1084C>T rs886063015
NM_017813.5(IMPAD1):c.*1123C>A rs369301033
NM_017813.5(IMPAD1):c.*1127_*1133del rs886063014
NM_017813.5(IMPAD1):c.*1220G>A rs143679493
NM_017813.5(IMPAD1):c.*1276A>G rs75984016
NM_017813.5(IMPAD1):c.*1313del rs199907097
NM_017813.5(IMPAD1):c.*1314G>A rs749994859
NM_017813.5(IMPAD1):c.*1338C>G rs543588217
NM_017813.5(IMPAD1):c.*1343A>G rs879131458
NM_017813.5(IMPAD1):c.*147C>T rs138038024
NM_017813.5(IMPAD1):c.*14C>T rs886063018
NM_017813.5(IMPAD1):c.*1620A>G rs886063013
NM_017813.5(IMPAD1):c.*1651G>A rs146906987
NM_017813.5(IMPAD1):c.*1693A>C rs182912899
NM_017813.5(IMPAD1):c.*1834A>G rs886063012
NM_017813.5(IMPAD1):c.*1960A>G rs886063011
NM_017813.5(IMPAD1):c.*2088A>G rs552701929
NM_017813.5(IMPAD1):c.*2138A>G rs376088755
NM_017813.5(IMPAD1):c.*2141T>C rs886063010
NM_017813.5(IMPAD1):c.*2149G>T rs187763974
NM_017813.5(IMPAD1):c.*2165C>T rs886063009
NM_017813.5(IMPAD1):c.*2181G>A rs563676770
NM_017813.5(IMPAD1):c.*2190G>A rs150450513
NM_017813.5(IMPAD1):c.*2320_*2322ATA[1] rs550189601
NM_017813.5(IMPAD1):c.*2382A>G rs115921469
NM_017813.5(IMPAD1):c.*2417C>T rs886063008
NM_017813.5(IMPAD1):c.*2444A>G rs571215531
NM_017813.5(IMPAD1):c.*2458G>T rs886063007
NM_017813.5(IMPAD1):c.*2607C>T rs535290326
NM_017813.5(IMPAD1):c.*2649C>A rs768963800
NM_017813.5(IMPAD1):c.*2726T>G rs886063006
NM_017813.5(IMPAD1):c.*2825C>T rs772899410
NM_017813.5(IMPAD1):c.*286_*288delinsTATGAGTCACCATTGACTCATTGTTATGAGT rs886063017
NM_017813.5(IMPAD1):c.*2993C>G rs886063005
NM_017813.5(IMPAD1):c.*3193T>C rs886063004
NM_017813.5(IMPAD1):c.*3235A>C rs886063003
NM_017813.5(IMPAD1):c.*3258T>G rs139817494
NM_017813.5(IMPAD1):c.*358G>A rs141905474
NM_017813.5(IMPAD1):c.*3653C>A rs139386127
NM_017813.5(IMPAD1):c.*3739C>T rs764103475
NM_017813.5(IMPAD1):c.*3811_*3814GTCT[1] rs751680074
NM_017813.5(IMPAD1):c.*3876T>A rs886063002
NM_017813.5(IMPAD1):c.*396A>T rs760278407
NM_017813.5(IMPAD1):c.*413_*414TC[1] rs886063016
NM_017813.5(IMPAD1):c.*4264G>A rs557759212
NM_017813.5(IMPAD1):c.*4496C>T rs561898077
NM_017813.5(IMPAD1):c.*4845A>G rs184184001
NM_017813.5(IMPAD1):c.*4973G>T rs150852896
NM_017813.5(IMPAD1):c.*5142G>T rs777098357
NM_017813.5(IMPAD1):c.*5193A>G rs187645072
NM_017813.5(IMPAD1):c.*5203A>T rs886063001
NM_017813.5(IMPAD1):c.*5300G>T rs540499421
NM_017813.5(IMPAD1):c.*5302C>T rs10763
NM_017813.5(IMPAD1):c.*5327C>G rs200958042
NM_017813.5(IMPAD1):c.*5395A>G rs561796338
NM_017813.5(IMPAD1):c.*5463G>C rs542901433
NM_017813.5(IMPAD1):c.*5492G>A rs113019850
NM_017813.5(IMPAD1):c.*5634A>G rs111509692
NM_017813.5(IMPAD1):c.*5752G>A rs886063000
NM_017813.5(IMPAD1):c.*5804G>A rs886062999
NM_017813.5(IMPAD1):c.*5821C>T rs886062998
NM_017813.5(IMPAD1):c.*70G>T rs371111058
NM_017813.5(IMPAD1):c.-146A>C rs537853348
NM_017813.5(IMPAD1):c.-155C>G rs548420336
NM_017813.5(IMPAD1):c.-252G>C rs886063021
NM_017813.5(IMPAD1):c.-274G>C rs534138309
NM_017813.5(IMPAD1):c.-279T>C rs886063022
NM_017813.5(IMPAD1):c.-69_-67CGG[7] rs756084314
NM_017813.5(IMPAD1):c.336G>A (p.Leu112=) rs148820865
NM_017813.5(IMPAD1):c.355T>C (p.Tyr119His) rs886063020
NM_017813.5(IMPAD1):c.652G>T (p.Ala218Ser) rs376366002
NM_017813.5(IMPAD1):c.687C>T (p.Arg229=) rs886063019
NM_017813.5(IMPAD1):c.856A>G (p.Lys286Glu) rs112433249
NM_017813.5(IMPAD1):c.939G>A (p.Gly313=) rs112201304
NM_017813.5(IMPAD1):c.964G>A (p.Glu322Lys) rs76235334
NM_017813.5(IMPAD1):c.988G>A (p.Gly330Ser) rs138502852

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.