ClinVar Miner

List of variants in gene GHRHR studied for not provided

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Gene type:
ClinVar version:
Total variants: 236
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.30963808C>T rs2302019 0.55122
NC_000007.14:g.30963834C>T rs2302020 0.35638
NM_000823.4(GHRHR):c.1146+166G>C rs4988505 0.35027
NM_000823.4(GHRHR):c.465-93A>G rs4988501 0.25481
NM_000823.4(GHRHR):c.975-204G>T rs36115000 0.23859
NM_000823.4(GHRHR):c.57+79C>T rs4988494 0.18165
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.974+82T>G rs2741 0.10230
NM_000823.4(GHRHR):c.813-137T>C rs35780782 0.09794
NM_000823.4(GHRHR):c.268+112C>T rs28371559 0.07471
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) rs4988498 0.07235
NM_000823.4(GHRHR):c.57+221A>G rs33944945 0.07214
NM_000823.4(GHRHR):c.-45C>T rs2302021 0.06644
NM_000823.4(GHRHR):c.57+298G>A rs34776252 0.06637
NM_000823.4(GHRHR):c.465-229G>T rs10224907 0.06220
NM_000823.4(GHRHR):c.*221T>C rs28371563 0.05985
NM_000823.4(GHRHR):c.975-165G>A rs10245096 0.05903
NM_000823.4(GHRHR):c.160+56C>T rs4988495 0.05781
NM_000823.4(GHRHR):c.597+293C>T rs3735429 0.04928
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.366+153T>C rs73307733 0.04600
NM_000823.4(GHRHR):c.*147A>C rs2586 0.04030
NM_000823.4(GHRHR):c.751+16G>T rs35808991 0.03443
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.1104+20C>T rs35997819 0.01170
NM_000823.4(GHRHR):c.751+18G>T rs34790466 0.00835
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.882+18T>A rs34430645 0.00297
NM_000823.4(GHRHR):c.751+12G>A rs187794371 0.00262
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.658C>T (p.Leu220=) rs146727093 0.00034
NM_000823.4(GHRHR):c.1268G>A (p.Cys423Tyr) rs139763309 0.00027
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.170C>T (p.Ala57Val) rs752793580 0.00023
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.810C>T (p.Ile270=) rs747823161 0.00009
NM_000823.4(GHRHR):c.57+1G>A rs2302022 0.00007
NM_000823.4(GHRHR):c.801C>T (p.Phe267=) rs562517014 0.00007
NM_000823.4(GHRHR):c.813-18T>C rs200143102 0.00007
NM_000823.4(GHRHR):c.990G>A (p.Ser330=) rs369089111 0.00007
NM_000823.4(GHRHR):c.1071C>A (p.Arg357=) rs557474309 0.00006
NM_000823.4(GHRHR):c.1105-3C>A rs758144992 0.00006
NM_000823.4(GHRHR):c.1146+3G>A rs374350459 0.00006
NM_000823.4(GHRHR):c.138G>A (p.Glu46=) rs375206873 0.00006
NM_000823.4(GHRHR):c.171G>A (p.Ala57=) rs369751652 0.00006
NM_000823.4(GHRHR):c.200C>T (p.Thr67Met) rs201893637 0.00006
NM_000823.4(GHRHR):c.28G>A (p.Val10Ile) rs879415203 0.00006
NM_000823.4(GHRHR):c.354G>A (p.Leu118=) rs766566547 0.00006
NM_000823.4(GHRHR):c.93C>T (p.Ile31=) rs143429066 0.00006
NM_000823.4(GHRHR):c.812+7C>T rs749787094 0.00005
NM_000823.4(GHRHR):c.885G>T (p.Val295=) rs146944568 0.00005
NM_000823.4(GHRHR):c.1014T>C (p.Phe338=) rs750488020 0.00004
NM_000823.4(GHRHR):c.1086G>A (p.Leu362=) rs1385658700 0.00004
NM_000823.4(GHRHR):c.1146+19T>C rs529351362 0.00004
NM_000823.4(GHRHR):c.1165C>T (p.Arg389Trp) rs200508601 0.00004
NM_000823.4(GHRHR):c.327T>C (p.Pro109=) rs749688300 0.00004
NM_000823.4(GHRHR):c.8G>A (p.Arg3His) rs768888026 0.00004
NM_000823.4(GHRHR):c.914G>A (p.Arg305His) rs200472991 0.00004
NM_000823.4(GHRHR):c.975-9T>C rs549927188 0.00004
NM_000823.4(GHRHR):c.1049A>G (p.Asp350Gly) rs794727020 0.00003
NM_000823.4(GHRHR):c.27C>T (p.His9=) rs534220273 0.00003
NM_000823.4(GHRHR):c.431T>A (p.Leu144His) rs121918118 0.00003
NM_000823.4(GHRHR):c.756G>A (p.Leu252=) rs1205731571 0.00003
NM_000823.4(GHRHR):c.759C>T (p.Pro253=) rs372209255 0.00003
NM_000823.4(GHRHR):c.812+12C>T rs151020002 0.00003
NM_000823.4(GHRHR):c.828C>T (p.Asp276=) rs147768462 0.00003
NM_000823.4(GHRHR):c.1007C>T (p.Pro336Leu) rs149182247 0.00002
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val) rs774281185 0.00002
NM_000823.4(GHRHR):c.870C>T (p.Val290=) rs369716383 0.00002
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys) rs376948691 0.00001
NM_000823.4(GHRHR):c.1087G>A (p.Gly363Arg) rs1417562969 0.00001
NM_000823.4(GHRHR):c.1108T>C (p.Phe370Leu) rs373883983 0.00001
NM_000823.4(GHRHR):c.1238G>A (p.Arg413His) rs781659959 0.00001
NM_000823.4(GHRHR):c.194G>A (p.Trp65Ter) rs1562592874 0.00001
NM_000823.4(GHRHR):c.230C>T (p.Pro77Leu) rs776859854 0.00001
NM_000823.4(GHRHR):c.253T>C (p.Phe85Leu) rs764209354 0.00001
NM_000823.4(GHRHR):c.280C>T (p.Arg94Trp) rs376258046 0.00001
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln) rs200848306 0.00001
NM_000823.4(GHRHR):c.328G>A (p.Val110Met) rs149024880 0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) rs758798716 0.00001
NM_000823.4(GHRHR):c.484A>G (p.Asn162Asp) rs886043578 0.00001
NM_000823.4(GHRHR):c.57C>T (p.Thr19=) rs780668137 0.00001
NM_000823.4(GHRHR):c.614C>T (p.Ser205Phe) rs1203248404 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_000823.4(GHRHR):c.812+8G>A rs566313031 0.00001
NM_000823.4(GHRHR):c.879C>T (p.Val293=) rs375674796 0.00001
NM_000823.4(GHRHR):c.882+10T>C rs1584415697 0.00001
NM_000823.4(GHRHR):c.882+12G>C rs747272834 0.00001
NM_000823.4(GHRHR):c.976C>T (p.Arg326Cys) rs763314210 0.00001
NC_000007.14:g.30969869dup
NC_000007.14:g.31008679C>T
NM_000823.4(GHRHR):c.1005C>T (p.Ile335=)
NM_000823.4(GHRHR):c.1009C>T (p.Leu337Phe) rs202089170
NM_000823.4(GHRHR):c.1017A>G (p.Gly339=)
NM_000823.4(GHRHR):c.1026C>T (p.Tyr342=)
NM_000823.4(GHRHR):c.1027A>C (p.Ile343Leu)
NM_000823.4(GHRHR):c.1042C>T (p.Leu348=)
NM_000823.4(GHRHR):c.1060C>T (p.Leu354=)
NM_000823.4(GHRHR):c.1074C>T (p.Leu358=)
NM_000823.4(GHRHR):c.1076C>T (p.Pro359Leu)
NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs) rs748432685
NM_000823.4(GHRHR):c.1104+6G>A rs1386580844
NM_000823.4(GHRHR):c.1105-11T>C
NM_000823.4(GHRHR):c.1105-4A>C
NM_000823.4(GHRHR):c.1105-6C>A
NM_000823.4(GHRHR):c.1105-9G>T rs1792608600
NM_000823.4(GHRHR):c.1140C>T (p.Asn380=)
NM_000823.4(GHRHR):c.1146+1G>T
NM_000823.4(GHRHR):c.1146+4T>A
NM_000823.4(GHRHR):c.1146G>A (p.Glu382=)
NM_000823.4(GHRHR):c.1147-8C>T
NM_000823.4(GHRHR):c.115A>C (p.Ser39Arg)
NM_000823.4(GHRHR):c.117T>C (p.Ser39=)
NM_000823.4(GHRHR):c.1193_1202del (p.Leu398fs) rs778207215
NM_000823.4(GHRHR):c.11G>A (p.Arg4Gln)
NM_000823.4(GHRHR):c.1208G>T (p.Arg403Met)
NM_000823.4(GHRHR):c.1241C>T (p.Ser414Leu)
NM_000823.4(GHRHR):c.1242G>A (p.Ser414=) rs28371562
NM_000823.4(GHRHR):c.1244C>T (p.Ala415Val)
NM_000823.4(GHRHR):c.1245G>A (p.Ala415=)
NM_000823.4(GHRHR):c.1246G>A (p.Ala416Thr)
NM_000823.4(GHRHR):c.124C>T (p.Leu42=) rs2128597172
NM_000823.4(GHRHR):c.1250del (p.Lys417fs) rs771060895
NM_000823.4(GHRHR):c.132A>C (p.Ala44=)
NM_000823.4(GHRHR):c.136GAG[1] (p.Glu47del)
NM_000823.4(GHRHR):c.15G>T (p.Met5Ile)
NM_000823.4(GHRHR):c.160+10C>A
NM_000823.4(GHRHR):c.160+1G>T
NM_000823.4(GHRHR):c.160+8G>A rs570325656
NM_000823.4(GHRHR):c.161-11T>C
NM_000823.4(GHRHR):c.161-17C>T
NM_000823.4(GHRHR):c.161-18T>C rs2128597226
NM_000823.4(GHRHR):c.174C>G (p.Thr58=)
NM_000823.4(GHRHR):c.193_194inv (p.Trp65Gln)
NM_000823.4(GHRHR):c.1A>T (p.Met1Leu) rs2128596127
NM_000823.4(GHRHR):c.201G>A (p.Thr67=)
NM_000823.4(GHRHR):c.213C>G (p.Gly71=)
NM_000823.4(GHRHR):c.213C>T (p.Gly71=)
NM_000823.4(GHRHR):c.224C>A (p.Thr75Asn)
NM_000823.4(GHRHR):c.225C>A (p.Thr75=)
NM_000823.4(GHRHR):c.22del (p.Ala8fs)
NM_000823.4(GHRHR):c.22dup (p.Ala8fs) rs1381777610
NM_000823.4(GHRHR):c.231C>T (p.Pro77=)
NM_000823.4(GHRHR):c.268+11del
NM_000823.4(GHRHR):c.268+17G>A
NM_000823.4(GHRHR):c.268+267C>G rs59765668
NM_000823.4(GHRHR):c.269-13G>A
NM_000823.4(GHRHR):c.269-26G>T
NM_000823.4(GHRHR):c.269-3del
NM_000823.4(GHRHR):c.282G>T (p.Arg94=)
NM_000823.4(GHRHR):c.290del (p.Thr97fs)
NM_000823.4(GHRHR):c.300C>T (p.Gly100=)
NM_000823.4(GHRHR):c.312C>T (p.Pro104=)
NM_000823.4(GHRHR):c.313T>C (p.Phe105Leu) rs1198348108
NM_000823.4(GHRHR):c.336C>T (p.Cys112=)
NM_000823.4(GHRHR):c.366+15G>A
NM_000823.4(GHRHR):c.384A>G (p.Thr128=) rs1388508517
NM_000823.4(GHRHR):c.385G>A (p.Val129Met)
NM_000823.4(GHRHR):c.393T>C (p.Ile131=)
NM_000823.4(GHRHR):c.402C>T (p.Thr134=)
NM_000823.4(GHRHR):c.405G>A (p.Val135=)
NM_000823.4(GHRHR):c.425T>C (p.Val142Ala) rs2128597693
NM_000823.4(GHRHR):c.436G>A (p.Val146Met)
NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) rs779187338
NM_000823.4(GHRHR):c.461_462del (p.Leu154fs)
NM_000823.4(GHRHR):c.464+17A>G
NM_000823.4(GHRHR):c.464+8A>G
NM_000823.4(GHRHR):c.465-6C>G
NM_000823.4(GHRHR):c.471C>T (p.Leu157=)
NM_000823.4(GHRHR):c.504G>A (p.Leu168=)
NM_000823.4(GHRHR):c.507C>G (p.Phe169Leu) rs570281194
NM_000823.4(GHRHR):c.516T>A (p.Phe172Leu)
NM_000823.4(GHRHR):c.520C>T (p.Leu174Phe)
NM_000823.4(GHRHR):c.528G>A (p.Ala176=)
NM_000823.4(GHRHR):c.550G>C (p.Ala184Pro) rs765740795
NM_000823.4(GHRHR):c.561C>T (p.Phe187=) rs200623488
NM_000823.4(GHRHR):c.57+17G>C rs2128596150
NM_000823.4(GHRHR):c.57+19C>A
NM_000823.4(GHRHR):c.577G>A (p.Asp193Asn)
NM_000823.4(GHRHR):c.58-14A>G
NM_000823.4(GHRHR):c.58-15C>G
NM_000823.4(GHRHR):c.597+7G>T
NM_000823.4(GHRHR):c.598-3del
NM_000823.4(GHRHR):c.598-7C>A
NM_000823.4(GHRHR):c.598-8G>C
NM_000823.4(GHRHR):c.622G>A (p.Ala208Thr)
NM_000823.4(GHRHR):c.633C>T (p.Phe211=)
NM_000823.4(GHRHR):c.63G>A (p.Leu21=)
NM_000823.4(GHRHR):c.687C>T (p.Cys229=) rs766819346
NM_000823.4(GHRHR):c.747C>T (p.Gly249=)
NM_000823.4(GHRHR):c.751+104G>T rs2074780
NM_000823.4(GHRHR):c.751+15C>G
NM_000823.4(GHRHR):c.751+17G>A
NM_000823.4(GHRHR):c.752-14C>T
NM_000823.4(GHRHR):c.752-7C>T
NM_000823.4(GHRHR):c.752G>A (p.Gly251Glu)
NM_000823.4(GHRHR):c.756G>C (p.Leu252=)
NM_000823.4(GHRHR):c.788G>T (p.Cys263Phe)
NM_000823.4(GHRHR):c.811G>A (p.Ala271Thr)
NM_000823.4(GHRHR):c.812+11G>A
NM_000823.4(GHRHR):c.812+13G>A
NM_000823.4(GHRHR):c.817T>C (p.Trp273Arg)
NM_000823.4(GHRHR):c.837C>G (p.Ser279=)
NM_000823.4(GHRHR):c.848G>A (p.Trp283Ter)
NM_000823.4(GHRHR):c.873C>T (p.Leu291=)
NM_000823.4(GHRHR):c.875C>G (p.Ser292Trp) rs527387367
NM_000823.4(GHRHR):c.876G>A (p.Ser292=)
NM_000823.4(GHRHR):c.876G>C (p.Ser292=) rs370074960
NM_000823.4(GHRHR):c.882+20C>A
NM_000823.4(GHRHR):c.882+7C>T
NM_000823.4(GHRHR):c.883-16A>G
NM_000823.4(GHRHR):c.883-19C>G
NM_000823.4(GHRHR):c.887A>G (p.Asn296Ser) rs1792563852
NM_000823.4(GHRHR):c.974+14G>A
NM_000823.4(GHRHR):c.974+214C>G rs73307743
NM_000823.4(GHRHR):c.974+9T>A rs1279722738
NM_000823.4(GHRHR):c.975-18G>A rs188490880
NM_000823.4(GHRHR):c.975-18G>T rs188490880
NM_000823.4(GHRHR):c.975-26G>A rs4988504
NM_000823.4(GHRHR):c.996T>A (p.Leu332=)

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