List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Endocrinology Clinic, Seth G.S. Medical College

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	rs369176613	0.00003
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
NC_000007.14:g.31008681G>T	rs1562606449
NC_000007.14:g.62535490A>G	rs483352872
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)	rs772390221
NM_000306.4(POU1F1):c.665+1G>T	rs515726221
NM_000406.3(GNRHR):c.392T>C (p.Met131Thr)	rs606231406
NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	rs515726220
NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala)	rs515726219

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