ClinVar Miner

List of variants reported as likely pathogenic for Kallmann syndrome 1

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Total variants: 4
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HGVS dbSNP
NM_000216.4(ANOS1):c.1449+1G>A
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) rs1057520209
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) rs1057519418
NM_000216.4(ANOS1):c.255+5G>A rs773138384

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