ClinVar Miner

List of variants in gene IMPAD1 studied for Chondrodysplasia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
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

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