List of variants in gene POU1F1 reported as likely pathogenic for congenital hypogonadotropic hypogonadism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val)	rs771947200	0.00001
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	rs761275346	0.00001
NC_000003.12:g.87310484C>T	rs606231411
NM_000306.4(POU1F1):c.143-83A>G
NM_000306.4(POU1F1):c.215-3C>G	rs754584667
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)	rs1559614730
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)	rs772390221
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr)	rs2106927025

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