ClinVar Miner

List of variants studied for Chondrodysplasia by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP
NM_000316.3(PTH1R):c.*127dup rs142021243
NM_000316.3(PTH1R):c.*7G>A rs199649688
NM_000316.3(PTH1R):c.-166G>A rs886058583
NM_000316.3(PTH1R):c.-37G>A rs201663714
NM_000316.3(PTH1R):c.1050-3dup rs754628395
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) rs1138518
NM_000316.3(PTH1R):c.1395+15G>A rs151077141
NM_000316.3(PTH1R):c.1427G>A (p.Arg476His) rs749111054
NM_000316.3(PTH1R):c.144C>T (p.Cys48=) rs568635759
NM_000316.3(PTH1R):c.1586A>G (p.Asn529Ser) rs199740724
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601
NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg) rs762939698
NM_000316.3(PTH1R):c.543+14T>C rs114449768
NM_000316.3(PTH1R):c.638+7G>A rs886058584
NM_000316.3(PTH1R):c.75+12G>A rs200603325
NM_000316.3(PTH1R):c.75+9C>T rs200710310
NM_000316.3(PTH1R):c.876G>T (p.Leu292=) rs200475872
NM_000557.5(GDF5):c.*166G>A rs569761315
NM_000557.5(GDF5):c.*193G>T rs114832948
NM_000557.5(GDF5):c.*335A>C rs73611720
NM_000557.5(GDF5):c.*387T>C rs553655935
NM_000557.5(GDF5):c.*389C>T rs535023630
NM_000557.5(GDF5):c.*425T>C rs56366915
NM_000557.5(GDF5):c.*520T>C rs188252641
NM_000557.5(GDF5):c.-135G>A rs73094730
NM_000557.5(GDF5):c.-220C>T rs886056643
NM_000557.5(GDF5):c.-275= rs143383
NM_000557.5(GDF5):c.-30C>A rs375024998
NM_000557.5(GDF5):c.-39C>T rs149907722
NM_000557.5(GDF5):c.-48= rs143384
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447
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.*2288G>A rs1396115
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.*2508T>A rs13275472
NM_017813.5(IMPAD1):c.*2607C>T rs535290326
NM_017813.5(IMPAD1):c.*2608A>C rs17188824
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.*3204A>G rs3739364
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.*3673A>G rs16921462
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.*4123_*4125del rs143068938
NM_017813.5(IMPAD1):c.*413_*414TC[1] rs886063016
NM_017813.5(IMPAD1):c.*4209G>A rs1396116
NM_017813.5(IMPAD1):c.*4264G>A rs557759212
NM_017813.5(IMPAD1):c.*4430A>G rs1396117
NM_017813.5(IMPAD1):c.*4496C>T rs561898077
NM_017813.5(IMPAD1):c.*4845A>G rs184184001
NM_017813.5(IMPAD1):c.*4890C>T rs1044731
NM_017813.5(IMPAD1):c.*4973G>T rs150852896
NM_017813.5(IMPAD1):c.*5014A>G rs111729642
NM_017813.5(IMPAD1):c.*501_*503TGT[1] rs199901281
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.*5505A>G rs8718
NM_017813.5(IMPAD1):c.*5512T>C rs9315
NM_017813.5(IMPAD1):c.*5634A>G rs111509692
NM_017813.5(IMPAD1):c.*5689dup rs200630025
NM_017813.5(IMPAD1):c.*5730A>G rs80163062
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.*701C>T rs1046636
NM_017813.5(IMPAD1):c.*70G>T rs371111058
NM_017813.5(IMPAD1):c.*764C>T rs10003
NM_017813.5(IMPAD1):c.*782G>A rs1046643
NM_017813.5(IMPAD1):c.*980del rs113846940
NM_017813.5(IMPAD1):c.-125C>T rs1057409
NM_017813.5(IMPAD1):c.-146A>C rs537853348
NM_017813.5(IMPAD1):c.-155C>G rs548420336
NM_017813.5(IMPAD1):c.-169C>T rs1057407
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.