List of variants reported as pathogenic for hypogonadotropic hypogonadism by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1169-1G>T
NM_017780.4(CHD7):c.2881del (p.Glu961fs)	rs2150749363
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)	rs864309609
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)	rs886040978
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)	rs1554603552
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs)	rs1586453824
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)	rs1064793346
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)	rs587783458
NM_017780.4(CHD7):c.807del (p.Ala270fs)	rs1586249559
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)	rs771806027
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs)	rs1595334203

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