ClinVar Miner

List of variants reported as pathogenic for Hypogonadotropic hypogonadism 6 with or without anosmia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_033163.5(FGF8):c.379C>G (p.Arg127Gly) rs137852663 0.00001
NM_033163.5(FGF8):c.118T>C (p.Phe40Leu) rs137852661
NM_033163.5(FGF8):c.298A>G (p.Lys100Glu) rs137852662
NM_033163.5(FGF8):c.379C>T (p.Arg127Ter) rs137852663
NM_033163.5(FGF8):c.385C>T (p.Arg129Ter) rs876661330
NM_033163.5(FGF8):c.40C>A (p.His14Asn) rs137852659

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