ClinVar Miner

List of variants reported for Hypogonadotropic hypogonadism 7 with or without anosmia by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_173648.4(CCDC141):c.1667A>G (p.Tyr556Cys) rs141003457 0.01226
NM_021913.5(AXL):c.2037-10A>C rs117941544 0.01124
NM_173648.4(CCDC141):c.4369G>A (p.Val1457Ile) rs145610810 0.00504
NM_173648.4(CCDC141):c.1521A>C (p.Gln507His) rs114129666 0.00468
NM_021913.5(AXL):c.1549G>A (p.Gly517Ser) rs35538872 0.00419
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser) rs144900788 0.00076
NM_000406.3(GNRHR):c.-8G>A rs199976279 0.00036
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) rs367560743 0.00011
NM_000406.3(GNRHR):c.401T>G (p.Val134Gly) rs188272653 0.00001
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) rs28933074 0.00001

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