List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.467del (p.Ser156fs)
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)	rs104893755
NM_000475.5(NR0B1):c.564_567dup (p.Gly190fs)
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	rs587783429
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)	rs587783442
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)	rs1554603552
NM_017780.4(CHD7):c.6607del (p.Ser2203fs)
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)	rs1555374290
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710

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