ClinVar Miner

List of variants reported as benign for Growth delay due to insulin-like growth factor I resistance by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000875.5(IGF1R):c.*6271C>T rs2177031 0.99101
NM_000875.5(IGF1R):c.*4000C>T rs1815009 0.65354
NM_000875.5(IGF1R):c.*3129G>T rs2016347 0.51655
NM_000875.5(IGF1R):c.*3766C>T rs2684788 0.51536
NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) rs2229765 0.39091
NM_000875.5(IGF1R):c.*4752G>T rs3743249 0.34298
NM_000875.5(IGF1R):c.*417_*418del rs45484096 0.29441
NM_000875.5(IGF1R):c.*4814C>T rs2684786 0.18785
NM_000875.5(IGF1R):c.*4391C>T rs2684787 0.18515
NM_000875.5(IGF1R):c.*5309C>T rs2684785 0.17877
NM_000875.5(IGF1R):c.*4172C>T rs2654980 0.17805
NM_000875.5(IGF1R):c.*3165T>C rs9282715 0.15353
NM_000875.5(IGF1R):c.*4645C>T rs3743250 0.14939
NM_000875.5(IGF1R):c.*3458G>A rs3743251 0.14471
NM_000875.5(IGF1R):c.*3333G>A rs61736167 0.07433
NM_000875.5(IGF1R):c.*874C>T rs34875596 0.07186
NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=) rs17847203 0.06768
NM_000875.5(IGF1R):c.2298C>T (p.Thr766=) rs3743262 0.05461
NM_000875.5(IGF1R):c.*1856C>T rs1058696 0.05132
NM_000875.5(IGF1R):c.*1087A>G rs2016873 0.03057
NM_000875.5(IGF1R):c.*6069G>A rs72754807 0.03006
NM_000875.5(IGF1R):c.*1425A>C rs34237671 0.02369
NM_000875.5(IGF1R):c.*5436C>T rs111563582 0.02355
NM_000875.5(IGF1R):c.864C>T (p.Ala288=) rs34430460 0.02169
NM_000875.5(IGF1R):c.*5157A>G rs28674628 0.01887
NM_000875.5(IGF1R):c.*5151T>C rs28393861 0.01830
NM_000875.5(IGF1R):c.903C>A (p.Gly301=) rs2229764 0.01664
NM_000875.5(IGF1R):c.*2212G>A rs79862306 0.01392
NM_000875.5(IGF1R):c.*6166G>A rs111990961 0.01368
NM_000875.5(IGF1R):c.*6186G>A rs73465768 0.01276
NM_000875.5(IGF1R):c.*6092G>A rs74534003 0.01259
NM_000875.5(IGF1R):c.*1724C>T rs34718548 0.01172
NM_000875.5(IGF1R):c.*5146G>A rs78982292 0.00992
NM_000875.5(IGF1R):c.94+14C>T rs35275105 0.00980
NM_000875.5(IGF1R):c.*6568A>C rs144178122 0.00879
NM_000875.5(IGF1R):c.1686G>A (p.Val562=) rs2228531 0.00870
NM_000875.5(IGF1R):c.*5570C>T rs116922843 0.00822
NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) rs45506098 0.00749
NM_000875.5(IGF1R):c.402G>A (p.Arg134=) rs35385418 0.00633
NM_000875.5(IGF1R):c.*977C>T rs148538142 0.00581
NM_000875.5(IGF1R):c.*5458A>G rs117503139 0.00533
NM_000875.5(IGF1R):c.*1152G>A rs142778685 0.00492
NM_000875.5(IGF1R):c.3298-9C>G rs7168369 0.00488
NM_000875.5(IGF1R):c.*3074G>A rs2002880 0.00451
NM_000875.5(IGF1R):c.*5528G>A rs113588178 0.00386
NM_000875.5(IGF1R):c.846C>T (p.Cys282=) rs35171849 0.00296
NM_000875.5(IGF1R):c.*4512G>A rs572141274 0.00164
NM_000875.5(IGF1R):c.*5227C>T rs182645795 0.00157
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00147
NM_000875.5(IGF1R):c.*1228G>A rs187193143 0.00142
NM_000875.5(IGF1R):c.*6493C>T rs142100490 0.00078
NM_000875.5(IGF1R):c.*4815G>A rs145781849 0.00073
NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser) rs45611935 0.00067
NM_000875.5(IGF1R):c.-51T>C rs777217358 0.00064
NM_000875.5(IGF1R):c.*4513A>G rs542634107 0.00060
NM_000875.5(IGF1R):c.*4329G>A rs528814787 0.00042
NM_000875.5(IGF1R):c.*1268del rs397772788
NM_000875.5(IGF1R):c.*2426del rs398028512
NM_000875.5(IGF1R):c.*2529GT[6] rs398058004
NM_000875.5(IGF1R):c.*2856_*2857dup rs397836919
NM_000875.5(IGF1R):c.*2858_*2860del rs375554267
NM_000875.5(IGF1R):c.*4458C>G rs2654981
NM_000875.5(IGF1R):c.-41_-33del rs544674838
NM_000875.5(IGF1R):c.885G>A (p.Gly295=) rs56303650

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