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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
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.*693G>A	rs113937917	0.00831
NM_000163.5(GHR):c.*2294A>G	rs368826175	0.00001
NM_000163.5(GHR):c.*1498TTG[6]	rs398064766
NM_000163.5(GHR):c.484G>A (p.Val162Ile)	rs6413484

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