ClinVar Miner

List of variants studied for Laron syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000163.5(GHR):c.-164A>G rs2940928 0.81907
NM_000163.5(GHR):c.*542_*543insA rs11369980 0.74904
NM_000163.5(GHR):c.*1554G>A rs7442754 0.71972
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_000163.5(GHR):c.*300G>A rs2910875 0.43476
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_000163.5(GHR):c.*1934T>C rs62372049 0.04177
NM_000163.5(GHR):c.*1770G>C rs144561552 0.03922
NM_000163.5(GHR):c.*1790G>A rs2973016 0.02583
NM_000163.5(GHR):c.*692C>A rs17839373 0.02559
NM_000163.5(GHR):c.1473C>T (p.Ser491=) rs6176 0.02017
NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) rs6182 0.01122
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) rs6184 0.01120
NM_000163.5(GHR):c.*781T>A rs17839374 0.01117
NM_000163.5(GHR):c.785-9G>A rs34190075 0.01100
NM_000163.5(GHR):c.1098A>G (p.Leu366=) rs116466139 0.00992
NM_000163.5(GHR):c.-39G>C rs527709793 0.00851
NM_000163.5(GHR):c.*693G>A rs113937917 0.00831
NM_000163.5(GHR):c.*2169C>T rs28943876 0.00826
NM_000163.5(GHR):c.*2292A>G rs35415717 0.00551
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_000163.5(GHR):c.*364C>T rs34929920 0.00245
NM_000163.5(GHR):c.99C>G (p.Pro33=) rs76183160 0.00222
NM_000163.5(GHR):c.*1539G>A rs181187685 0.00131
NM_000163.5(GHR):c.*1936T>C rs144506757 0.00128
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp) rs148945224 0.00101
NM_000163.5(GHR):c.*534G>C rs1018084993 0.00092
NM_000163.5(GHR):c.273T>A (p.Thr91=) rs138491809 0.00089
NM_000163.5(GHR):c.*836G>C rs371249176 0.00078
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000163.5(GHR):c.1483C>A (p.Pro495Thr) rs6183 0.00068
NM_000163.5(GHR):c.*1611G>A rs543135249 0.00053
NM_000163.5(GHR):c.-10T>C rs201804261 0.00034
NM_000163.5(GHR):c.875+10G>C rs35111599 0.00028
NM_000163.5(GHR):c.*2376A>G rs181681602 0.00024
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000163.5(GHR):c.82A>G (p.Ile28Val) rs143287692 0.00022
NM_000163.5(GHR):c.876-15T>G rs199960137 0.00022
NM_000163.5(GHR):c.267-3T>C rs201917287 0.00019
NM_000163.5(GHR):c.814A>G (p.Ile272Val) rs35040971 0.00018
NM_000163.5(GHR):c.*36A>T rs376523421 0.00014
NM_000163.5(GHR):c.724G>A (p.Glu242Lys) rs121909364 0.00014
NM_000163.5(GHR):c.*1797G>C rs769061479 0.00010
NM_000163.5(GHR):c.*941A>G rs886060644 0.00010
NM_000163.5(GHR):c.*670T>C rs566673833 0.00009
NM_000163.5(GHR):c.1146C>T (p.Gly382=) rs533441671 0.00008
NM_000163.5(GHR):c.182G>A (p.Arg61Gln) rs747723725 0.00008
NM_000163.5(GHR):c.*390A>G rs1005604480 0.00007
NM_000163.5(GHR):c.1601A>G (p.Tyr534Cys) rs559502730 0.00007
NM_000163.5(GHR):c.*1847T>G rs886060648 0.00006
NM_000163.5(GHR):c.*1892T>A rs886060649 0.00004
NM_000163.5(GHR):c.-176A>G rs1314535276 0.00004
NM_000163.5(GHR):c.660G>T (p.Leu220Phe) rs200851410 0.00004
NM_000163.5(GHR):c.*1032T>C rs961035722 0.00003
NM_000163.5(GHR):c.486C>T (p.Val162=) rs773964952 0.00003
NM_000163.5(GHR):c.*474C>A rs1007140367 0.00002
NM_000163.5(GHR):c.1899G>A (p.Leu633=) rs758515730 0.00002
NM_000163.5(GHR):c.206C>T (p.Thr69Ile) rs75028043 0.00002
NM_000163.5(GHR):c.*2018T>C rs886060651 0.00001
NM_000163.5(GHR):c.*2294A>G rs368826175 0.00001
NM_000163.5(GHR):c.*461T>G rs1393621798 0.00001
NM_000163.5(GHR):c.*61C>T rs1758916018 0.00001
NM_000163.5(GHR):c.*629G>A rs545231127 0.00001
NM_000163.5(GHR):c.*724G>T rs1579681863 0.00001
NM_000163.5(GHR):c.-6A>G rs371646052 0.00001
NM_000163.5(GHR):c.1002C>T (p.Pro334=) rs148387362 0.00001
NM_000163.5(GHR):c.1699A>T (p.Ile567Phe) rs373401634 0.00001
NM_000163.5(GHR):c.169C>T (p.Arg57Cys) rs200503849 0.00001
NM_000163.5(GHR):c.1745G>A (p.Gly582Glu) rs1017271370 0.00001
NM_000163.5(GHR):c.1832C>T (p.Ala611Val) rs775194712 0.00001
NM_000163.5(GHR):c.440-7T>C rs371700718 0.00001
NM_000163.5(GHR):c.68A>G (p.Glu23Gly) rs775749224 0.00001
NM_000163.5(GHR):c.*1253_*1256del rs886060646
NM_000163.5(GHR):c.*1498TTG[6] rs398064766
NM_000163.5(GHR):c.*1531G>A rs1437623602
NM_000163.5(GHR):c.*154G>A rs565340420
NM_000163.5(GHR):c.*1689A>T rs886060647
NM_000163.5(GHR):c.*1747G>A rs1759005388
NM_000163.5(GHR):c.*1916T>G rs886060650
NM_000163.5(GHR):c.*2042A>G rs886060652
NM_000163.5(GHR):c.*832G>A rs1006780293
NM_000163.5(GHR):c.*913C>T rs540531795
NM_000163.5(GHR):c.*981G>A rs886060645
NM_000163.5(GHR):c.-118C>T rs1050201240
NM_000163.5(GHR):c.-150C>A rs368929640
NM_000163.5(GHR):c.-74C>T rs892049573
NM_000163.5(GHR):c.-76C>T rs1742723526
NM_000163.5(GHR):c.-89G>T rs1033209852
NM_000163.5(GHR):c.1025G>T (p.Trp342Leu) rs886060641
NM_000163.5(GHR):c.1640C>T (p.Ala547Val) rs886060642
NM_000163.5(GHR):c.1664A>G (p.His555Arg) rs1036625271
NM_000163.5(GHR):c.1788C>G (p.Thr596=) rs886060643
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) rs557134454

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.