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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro)	rs104893756	0.00003
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	rs761275346	0.00001
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)	rs104893764	0.00001
NM_000306.4(POU1F1):c.143-64T>G	rs1064796954
NM_000306.4(POU1F1):c.143-66T>G	rs2106940833
NM_000306.4(POU1F1):c.143-68T>A	rs2106940845
NM_000306.4(POU1F1):c.143-69T>G	rs2106940848
NM_000306.4(POU1F1):c.143-71T>G	rs2106940851
NM_000306.4(POU1F1):c.143-73T>G	rs2106940853
NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys)	rs104893761
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln)	rs104893759
NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter)	rs104893763
NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter)	rs104893754
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg)	rs104893766
NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg)	rs104893758
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)	rs772390221
NM_000306.4(POU1F1):c.665+1G>T	rs515726221
NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser)	rs104893762
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu)	rs104893757
NM_000306.4(POU1F1):c.747del (p.Glu250fs)	rs587776798
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter)	rs104893760
NM_000306.4(POU1F1):c.775dup (p.Arg259fs)	rs587776799
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)	rs104893755

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