ClinVar Miner

List of variants in gene GHR studied for adrenal gland disorder

Included ClinVar conditions (114):
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000163.5(GHR):c.558A>G (p.Gly186=) rs6179 0.64137
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) rs6180 0.42616
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00024
NM_000163.5(GHR):c.726G>C (p.Glu242Asp) rs45588036 0.00006
NM_000163.5(GHR):c.1589T>C (p.Met530Thr) rs148677728 0.00004
NM_000163.5(GHR):c.1003G>A (p.Glu335Lys) rs199937609 0.00003
NM_000163.5(GHR):c.184G>A (p.Glu62Lys) rs121909361 0.00002
NM_000163.5(GHR):c.497G>A (p.Gly166Glu) rs761856079 0.00001
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.559T>C (p.Trp187Arg) rs886037910
NM_000163.5(GHR):c.876-1G>C rs730880308

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