ClinVar Miner

List of variants reported as uncertain significance for Growth delay due to insulin-like growth factor type 1 deficiency

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ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_000618.5(IGF1):c.*260A>T rs879384585 0.01534
NM_000618.5(IGF1):c.*1718T>G rs3730201 0.00272
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_000618.5(IGF1):c.*3890G>A rs534164209 0.00127
NM_000618.5(IGF1):c.*1940T>C rs564272997 0.00114
NM_000618.5(IGF1):c.*6622A>G rs537246408 0.00104
NM_000618.5(IGF1):c.352G>A (p.Ala118Thr) rs151098426 0.00080
NM_000618.5(IGF1):c.*1319A>G rs765196070 0.00072
NM_000618.5(IGF1):c.*1849G>A rs144679734 0.00056
NM_000618.5(IGF1):c.*4758G>C rs5742709 0.00051
NM_000618.5(IGF1):c.*2006C>T rs746438140 0.00045
NM_000618.5(IGF1):c.*1398C>T rs141739269 0.00041
NM_000618.5(IGF1):c.*5538C>T rs546707849 0.00038
NM_000618.5(IGF1):c.*2362A>G rs886048884 0.00031
NM_000618.5(IGF1):c.*3923T>C rs547838899 0.00031
NM_000618.5(IGF1):c.*2241C>T rs545700518 0.00024
NM_000618.5(IGF1):c.*447G>C rs556986582 0.00022
NM_000618.5(IGF1):c.*5533C>T rs566519887 0.00021
NM_000618.5(IGF1):c.*2827C>T rs574537538 0.00019
NM_000618.5(IGF1):c.45C>G (p.Cys15Trp) rs77017132 0.00019
NM_000618.5(IGF1):c.*23G>A rs374864970 0.00017
NM_000618.5(IGF1):c.*4525C>T rs886048869 0.00016
NM_000618.5(IGF1):c.*3366C>G rs551668715 0.00015
NM_000618.5(IGF1):c.*265T>A rs771502062 0.00012
NM_000618.5(IGF1):c.*2195G>A rs886048885 0.00011
NM_000618.5(IGF1):c.150G>A (p.Pro50=) rs373202198 0.00010
NM_000618.5(IGF1):c.*1386G>A rs886048886 0.00009
NM_000618.5(IGF1):c.*954G>A rs866680462 0.00009
NM_000618.5(IGF1):c.*4540C>T rs184498533 0.00006
NM_000618.5(IGF1):c.*5332G>T rs886048862 0.00006
NM_000618.5(IGF1):c.*5449G>A rs569070910 0.00006
NM_000618.5(IGF1):c.90G>A (p.Ser30=) rs374228630 0.00006
NM_000618.5(IGF1):c.*1724C>T rs6212 0.00005
NM_000618.5(IGF1):c.*4409T>G rs911177655 0.00005
NM_000618.5(IGF1):c.*662C>A rs534391324 0.00005
NM_000618.5(IGF1):c.*4007G>A rs187778551 0.00004
NM_000618.5(IGF1):c.*4669G>T rs886048868 0.00004
NM_000618.5(IGF1):c.*5079T>C rs886048864 0.00003
NM_000618.5(IGF1):c.107C>T (p.Ala36Val) rs775312813 0.00002
NM_000618.5(IGF1):c.*1033A>G rs886048888 0.00001
NM_000618.5(IGF1):c.*1354A>G rs886048887 0.00001
NM_000618.5(IGF1):c.*2197A>G rs771430306 0.00001
NM_000618.5(IGF1):c.*2212G>A rs140864343 0.00001
NM_000618.5(IGF1):c.*2820A>G rs543153089 0.00001
NM_000618.5(IGF1):c.*2908T>C rs921344799 0.00001
NM_000618.5(IGF1):c.*3190A>G rs578217606 0.00001
NM_000618.5(IGF1):c.*4413T>G rs886048871 0.00001
NM_000618.5(IGF1):c.*4488T>A rs944640444 0.00001
NM_000618.5(IGF1):c.*550C>T rs904413261 0.00001
NM_000618.5(IGF1):c.*5844A>C rs886048861 0.00001
NM_000618.5(IGF1):c.*5930A>T rs1873201815 0.00001
NM_000618.5(IGF1):c.*6598T>C rs886048855 0.00001
NM_000618.5(IGF1):c.*780G>A rs1301753799 0.00001
NM_000618.5(IGF1):c.*1054G>C rs1167466973
NM_000618.5(IGF1):c.*1157G>T rs79306998
NM_000618.5(IGF1):c.*1204C>T rs963411890
NM_000618.5(IGF1):c.*1489T>C rs1270063827
NM_000618.5(IGF1):c.*1643G>A rs1873625347
NM_000618.5(IGF1):c.*2047C>A rs1050059471
NM_000618.5(IGF1):c.*2047C>T rs1050059471
NM_000618.5(IGF1):c.*2375del rs35306040
NM_000618.5(IGF1):c.*2375dup rs35306040
NM_000618.5(IGF1):c.*2376del rs886048882
NM_000618.5(IGF1):c.*2377dup rs886048881
NM_000618.5(IGF1):c.*262AT[10] rs201878788
NM_000618.5(IGF1):c.*263_*265delinsAAA rs886048889
NM_000618.5(IGF1):c.*2968C>A rs1873506951
NM_000618.5(IGF1):c.*3360G>C rs55973581
NM_000618.5(IGF1):c.*3362CA[17] rs3032446
NM_000618.5(IGF1):c.*3362CA[18] rs3032446
NM_000618.5(IGF1):c.*3362CA[20] rs3032446
NM_000618.5(IGF1):c.*3362CA[23] rs3032446
NM_000618.5(IGF1):c.*3365_*3366insGACA rs886048880
NM_000618.5(IGF1):c.*3615T>G rs886048877
NM_000618.5(IGF1):c.*3707dup rs886048876
NM_000618.5(IGF1):c.*3716G>T rs1063599
NM_000618.5(IGF1):c.*3800G>A rs998117861
NM_000618.5(IGF1):c.*3915A>G rs886048875
NM_000618.5(IGF1):c.*3933G>C rs886048874
NM_000618.5(IGF1):c.*4368C>T rs886048873
NM_000618.5(IGF1):c.*4404G>T rs201936984
NM_000618.5(IGF1):c.*4404_*4407del rs886048872
NM_000618.5(IGF1):c.*4421_*4422insT rs886048870
NM_000618.5(IGF1):c.*447G>A rs556986582
NM_000618.5(IGF1):c.*4519T>A rs1282576962
NM_000618.5(IGF1):c.*4699C>G rs886048867
NM_000618.5(IGF1):c.*4940C>A rs886048866
NM_000618.5(IGF1):c.*4980T>C rs886048865
NM_000618.5(IGF1):c.*5164C>T rs187947737
NM_000618.5(IGF1):c.*5187A>G rs886048863
NM_000618.5(IGF1):c.*5289T>A rs554492318
NM_000618.5(IGF1):c.*5332G>A rs886048862
NM_000618.5(IGF1):c.*5670C>T rs1873229660
NM_000618.5(IGF1):c.*5991C>T rs1873197038
NM_000618.5(IGF1):c.*6119G>A rs886048860
NM_000618.5(IGF1):c.*6181T>C rs886048859
NM_000618.5(IGF1):c.*6227G>C rs886048858
NM_000618.5(IGF1):c.*6243A>T rs886048857
NM_000618.5(IGF1):c.*6490_*6493delinsCTAAAATGTAACTAATTGAATA rs886048856
NM_000618.5(IGF1):c.*6583A>G rs1873142530
NM_000618.5(IGF1):c.320T>G (p.Met107Arg)
NM_000618.5(IGF1):c.384C>T (p.Asp128=) rs761202967
NM_000618.5(IGF1):c.421G>T (p.Ala141Ser) rs367603396

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