ClinVar Miner

List of variants in gene GHR reported as uncertain significance for Laron syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
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.*534G>C rs1018084993 0.00092
NM_000163.5(GHR):c.273T>A (p.Thr91=) rs138491809 0.00089
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
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.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.*2018T>C rs886060651 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.*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.1025G>T (p.Trp342Leu) rs886060641
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.1788C>G (p.Thr596=) rs886060643
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
NM_000163.5(GHR):c.311A>G (p.Tyr104Cys)
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.723C>T (p.Gly241=)
NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) rs557134454

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