ClinVar Miner

List of variants in gene GHRHR reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.30963808C>T rs2302019 0.54588
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 0.25193
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 0.10548
NM_000823.4(GHRHR):c.813-137T>C rs35780782 0.09397
NM_000823.4(GHRHR):c.57+221A>G rs33944945 0.07477
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.-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.366+13T>G rs4988499 0.04905
NM_000823.4(GHRHR):c.564C>T (p.His188=) rs740336 0.04777
NM_000823.4(GHRHR):c.597+293C>T rs3735429 0.04686
NM_000823.4(GHRHR):c.366+153T>C rs73307733 0.04600
NM_000823.4(GHRHR):c.751+16G>T rs35808991 0.03225
NM_000823.4(GHRHR):c.1265T>C (p.Met422Thr) rs2228078 0.02812
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_000823.4(GHRHR):c.10C>T (p.Arg4Trp) rs142361839 0.00048
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter) rs121918117 0.00018
NM_000823.4(GHRHR):c.57+1G>A rs2302022 0.00007
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.230C>T (p.Pro77Leu) rs776859854 0.00001
NM_000823.4(GHRHR):c.481C>T (p.Arg161Trp) rs758798716 0.00001
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter) rs1049885467 0.00001
NM_000823.4(GHRHR):c.1089_1093del (p.Leu364fs) rs748432685
NM_000823.4(GHRHR):c.1193_1202del (p.Leu398fs) rs778207215
NM_000823.4(GHRHR):c.268+267C>G rs59765668
NM_000823.4(GHRHR):c.313T>C (p.Phe105Leu) rs1198348108
NM_000823.4(GHRHR):c.751+104G>T rs2074780
NM_000823.4(GHRHR):c.817T>C (p.Trp273Arg) rs1250709814
NM_000823.4(GHRHR):c.974+214C>G rs73307743
NM_000823.4(GHRHR):c.975-26G>A rs4988504

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