ClinVar Miner

List of variants in gene GHRHR studied for isolated congenital growth hormone deficiency

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) rs4988496 0.12048
NM_000823.4(GHRHR):c.598-10T>C rs35609199 0.10863
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) rs4988498 0.07235
NM_000823.4(GHRHR):c.-45C>T rs2302021 0.06644
NM_000823.4(GHRHR):c.*221T>C rs28371563 0.05985
NM_000823.4(GHRHR):c.366+13T>G rs4988499 0.04905
NM_000823.4(GHRHR):c.564C>T (p.His188=) rs740336 0.04789
NM_000823.4(GHRHR):c.*147A>C rs2586 0.04030
NM_000823.4(GHRHR):c.*236C>A rs28371564 0.02852
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) rs2228078 0.02812
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.673G>A (p.Val225Ile) rs28371560 0.00225
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.272C>T (p.Ala91Val) rs144372265 0.00019
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
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.57+1G>A rs2302022 0.00007
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.151A>G (p.Thr51Ala) rs141571344 0.00003
NM_000823.4(GHRHR):c.431T>A (p.Leu144His) rs121918118 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.527C>T (p.Ala176Val) rs774281185 0.00002
NM_000823.4(GHRHR):c.*198C>A rs886062276 0.00001
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) rs376948691 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_000823.4(GHRHR):c.447C>T (p.Thr149=) rs753197652 0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) rs758798716 0.00001
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys) rs121918119 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 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
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.30963945A>C rs2128596101
NC_000007.14:g.31008681G>T rs1562606449
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.260C>A (p.Ser87Ter)
NM_000823.4(GHRHR):c.279A>G (p.Lys93=) rs1792444704
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro) rs606231412
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_000823.4(GHRHR):c.489C>G (p.Tyr163Ter) rs147098353
NM_000823.4(GHRHR):c.495C>A (p.His165Gln) rs606231413
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.665C>A (p.Ala222Glu) rs121918120
NM_000823.4(GHRHR):c.847T>C (p.Trp283Arg)
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) rs527387367
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter) rs2128598609
NM_000823.4(GHRHR):c.974+15T>G rs1792566990
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu) rs121918121
NM_000823.4(GHRHR):c.[1102C>T;481C>T]

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