ClinVar Miner

List of variants in gene GHR reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000163.5(GHR):c.703C>T (p.Arg235Ter) rs121909363 0.00008
NM_000163.5(GHR):c.594A>G (p.Glu198=) rs121909360 0.00002
NM_000163.5(GHR):c.168C>A (p.Cys56Ter) rs121909359 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
GHR, EX4,6DEL
NM_000163.5(GHR):c.102G>A (p.Trp34Ter) rs121909370
NM_000163.5(GHR):c.1734del (p.Arg578fs)
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.335G>C (p.Cys112Ser) rs121909372
NM_000163.5(GHR):c.341T>C (p.Phe114Ser) rs121909357
NM_000163.5(GHR):c.364T>C (p.Trp122Arg) rs190314158
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.743_744del (p.Tyr248fs)
NM_000163.5(GHR):c.945G>A (p.Lys315=) rs1554040858
NP_000154.1:p.Ala442Serfs*27

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