ClinVar Miner

List of variants in gene combination ARL14EP-DT, FSHB reported as uncertain significance for Hypogonadotropic hypogonadism 24 without anosmia

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001382289.1(FSHB):c.*1009G>A rs75464895 0.00544
NM_001382289.1(FSHB):c.312G>A (p.Lys104=) rs34365964 0.00371
NM_001382289.1(FSHB):c.59G>T (p.Ser20Ile) rs6170 0.00231
NM_001382289.1(FSHB):c.*303C>A rs555094841 0.00162
NM_001382289.1(FSHB):c.*898T>C rs143137782 0.00120
NM_001382289.1(FSHB):c.327C>A (p.Ser109Arg) rs148454792 0.00071
NM_001382289.1(FSHB):c.*1337G>A rs540432482 0.00047
NM_001382289.1(FSHB):c.344G>A (p.Arg115Gln) rs151303573 0.00021
NM_001382289.1(FSHB):c.*212T>C rs879553055 0.00010
NM_001382289.1(FSHB):c.*841C>A rs969083152 0.00004
NM_001382289.1(FSHB):c.*551G>A rs886048179 0.00001
NM_001382289.1(FSHB):c.*663G>C rs779622190 0.00001
NM_001382289.1(FSHB):c.30C>G (p.Phe10Leu) rs763300762 0.00001
NM_000510.3(FSHB):c.*1430T>C rs1852066518
NM_001382289.1(FSHB):c.*610C>T rs1852054247
NM_001382289.1(FSHB):c.*872C>T rs552570330
NM_001382289.1(FSHB):c.-38+2T>C rs886048178
NM_001382289.1(FSHB):c.-66C>G rs755811230
NM_001382289.1(FSHB):c.245C>T (p.Pro82Leu) rs1044572003
NM_001382289.1(FSHB):c.83T>C (p.Ile28Thr)

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