List of variants in gene GHRHR reported as uncertain significance for combined pituitary hormone deficiencies, genetic form

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

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_000823.4(GHRHR):c.741C>T (p.Leu247=)	rs151019928	0.00461
NM_000823.4(GHRHR):c.237G>A (p.Pro79=)	rs28371558	0.00351
NM_000823.4(GHRHR):c.751+12G>A	rs187794371	0.00262
NM_000823.4(GHRHR):c.*51C>T	rs185262577	0.00240
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser)	rs10227922	0.00125
NM_000823.4(GHRHR):c.1105-14C>G	rs13223704	0.00101
NM_000823.4(GHRHR):c.975-6C>A	rs117572522	0.00088
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp)	rs142361839	0.00048
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=)	rs147098353	0.00044
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly)	rs139599160	0.00025
NM_000823.4(GHRHR):c.490G>A (p.Val164Ile)	rs138615339	0.00024
NM_000823.4(GHRHR):c.660G>A (p.Leu220=)	rs145466944	0.00024
NM_000823.4(GHRHR):c.359C>T (p.Ala120Val)	rs138751215	0.00023
NM_000823.4(GHRHR):c.53C>T (p.Pro18Leu)	rs202243828	0.00023
NM_000823.4(GHRHR):c.47C>T (p.Pro16Leu)	rs142833343	0.00015
NM_000823.4(GHRHR):c.6C>T (p.Asp2=)	rs148704543	0.00011
NM_000823.4(GHRHR):c.*29A>G	rs759106817	0.00009
NM_000823.4(GHRHR):c.580C>T (p.His194Tyr)	rs377182945	0.00008
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met)	rs201893637	0.00006
NM_000823.4(GHRHR):c.485A>T (p.Asn162Ile)	rs746565662	0.00006
NM_000823.4(GHRHR):c.93C>T (p.Ile31=)	rs143429066	0.00006
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp)	rs200508601	0.00004
NM_000823.4(GHRHR):c.914G>A (p.Arg305His)	rs200472991	0.00004
NM_000823.4(GHRHR):c.*88T>A	rs578006876	0.00003
NM_000823.4(GHRHR):c.760G>A (p.Val254Met)	rs375562610	0.00003
NM_000823.4(GHRHR):c.812+12C>T	rs151020002	0.00003
NM_000823.4(GHRHR):c.*198C>A	rs886062276	0.00001
NM_000823.4(GHRHR):c.447C>T (p.Thr149=)	rs753197652	0.00001
NM_000823.4(GHRHR):c.812C>T (p.Ala271Val)	rs547906129	0.00001
NM_000823.4(GHRHR):c.882+11G>A	rs200997755	0.00001
NM_000823.4(GHRHR):c.1213C>T (p.Arg405Cys)
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=)	rs28371562
NM_000823.4(GHRHR):c.1250del (p.Lys417fs)	rs771060895
NM_000823.4(GHRHR):c.174C>A (p.Thr58=)	rs540740642
NM_000823.4(GHRHR):c.208T>G (p.Ser70Ala)	rs775025721
NM_000823.4(GHRHR):c.279A>G (p.Lys93=)	rs1792444704
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter)	rs147098353
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu)	rs570281194
NM_000823.4(GHRHR):c.57+1G>T	rs2302022
NM_000823.4(GHRHR):c.640A>G (p.Met214Val)	rs535947130
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp)	rs527387367
NM_000823.4(GHRHR):c.974+15T>G	rs1792566990

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