ClinVar Miner

List of variants reported as likely pathogenic for Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)

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Total variants: 8
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HGVS dbSNP
NC_000023.11:g.(?_8553932)_(8597276_?)dup
NM_000216.4(ANOS1):c.1449+1G>A rs1601946139
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) rs1057520209
NM_000216.4(ANOS1):c.171_174dup (p.Thr59fs)
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) rs1057519418
NM_000216.4(ANOS1):c.255+5G>A rs773138384
NM_000216.4(ANOS1):c.313del (p.Cys105fs) rs1601988004
NM_000216.4(ANOS1):c.422G>A (p.Ser141Asn) rs932845258

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