ClinVar Miner

List of variants studied for Laron syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 128
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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.703C>T (p.Arg235Ter) rs121909363 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.594A>G (p.Glu198=) rs121909360 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.168C>A (p.Cys56Ter) rs121909359 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.504T>G (p.His168Gln) rs121909373 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000163.5(GHR):c.68A>G (p.Glu23Gly) rs775749224 0.00001
GHR, EX4,6DEL
NC_000005.10:g.(42700003_42711206)_(42719424_?)del
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.102G>A (p.Trp34Ter) rs121909370
NM_000163.5(GHR):c.12G>C (p.Trp4Cys) rs1554020272
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.1734del (p.Arg578fs)
NM_000163.5(GHR):c.1788C>G (p.Thr596=) rs886060643
NM_000163.5(GHR):c.181C>T (p.Arg61Ter) rs121909358
NM_000163.5(GHR):c.192_193del (p.Ser65fs) rs1194378231
NM_000163.5(GHR):c.266+1G>A rs1009412984
NM_000163.5(GHR):c.267-1155_333del
NM_000163.5(GHR):c.267-2A>G rs1757597156
NM_000163.5(GHR):c.281G>A (p.Trp94Ter) rs1060499692
NM_000163.5(GHR):c.303C>A (p.Cys101Ter) rs121909371
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
NM_000163.5(GHR):c.311A>G (p.Tyr104Cys)
NM_000163.5(GHR):c.335G>C (p.Cys112Ser) rs121909372
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) rs121909357
NM_000163.5(GHR):c.344A>C (p.Asn115Thr) rs1579626395
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) rs190314158
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000163.5(GHR):c.484G>T (p.Val162Phe) rs6413484
NM_000163.5(GHR):c.512T>C (p.Ile171Thr) rs121909367
NM_000163.5(GHR):c.515A>C (p.Gln172Pro) rs121909368
NM_000163.5(GHR):c.518T>G (p.Val173Gly) rs121909369
NM_000163.5(GHR):c.618+792A>G rs1011727375
NM_000163.5(GHR):c.619-1G>T rs730880281
NM_000163.5(GHR):c.70+5G>A rs2112477601
NM_000163.5(GHR):c.723C>T (p.Gly241=)
NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) rs557134454
NM_000163.5(GHR):c.743_744del (p.Tyr248fs)
NM_000163.5(GHR):c.945G>A (p.Lys315=) rs1554040858
NP_000154.1:p.Ala442Serfs*27

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