ClinVar Miner

List of variants in gene INSR reported as benign for Leprechaunism syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP
NM_000208.3(INSR):c.*4794T>C rs10415841
NM_000208.3(INSR):c.*4802C>T rs12150997
NM_000208.4(INSR):c.*104A>G rs1051690
NM_000208.4(INSR):c.*1089A>G rs116422284
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*1432C>T rs111557734
NM_000208.4(INSR):c.*1494G>A rs3745550
NM_000208.4(INSR):c.*1974_*1975del rs148930499
NM_000208.4(INSR):c.*2010G>A rs55972112
NM_000208.4(INSR):c.*224C>T rs2860171
NM_000208.4(INSR):c.*2340A>G rs78987925
NM_000208.4(INSR):c.*2502A>G rs149795309
NM_000208.4(INSR):c.*2519G>A rs114982195
NM_000208.4(INSR):c.*2779G>A rs3745551
NM_000208.4(INSR):c.*2793C>A rs9282760
NM_000208.4(INSR):c.*2854G>T rs1864193
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*3029T>C rs72988602
NM_000208.4(INSR):c.*3463A>G rs115358150
NM_000208.4(INSR):c.*3541C>T rs116953519
NM_000208.4(INSR):c.*3592A>G rs75499056
NM_000208.4(INSR):c.*3623A>G rs77859571
NM_000208.4(INSR):c.*3786G>C
NM_000208.4(INSR):c.*3857C>T rs114405975
NM_000208.4(INSR):c.*4186T>C rs1366600
NM_000208.4(INSR):c.*4195T>C rs1366601
NM_000208.4(INSR):c.*4218G>C rs10416396
NM_000208.4(INSR):c.*4270G>A rs74433419
NM_000208.4(INSR):c.*4422G>T rs12642
NM_000208.4(INSR):c.*4474C>T rs1052371
NM_000208.4(INSR):c.*4602C>T rs10413914
NM_000208.4(INSR):c.*784C>G rs1051651
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435
NM_000208.4(INSR):c.1123+13G>T rs72549236
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.1862-4A>G rs2245649
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.2542+3A>G rs13306451
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432
NM_000208.4(INSR):c.2682+9C>G rs41398545
NM_000208.4(INSR):c.2683-5C>T rs41306363
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817
NM_000208.4(INSR):c.3795-5C>T rs78312382
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757

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.