List of variants in gene POU3F4 reported as pathogenic by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu)	rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs)	rs398122517
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter)	rs104894920
NM_000307.5(POU3F4):c.648del (p.Leu217fs)	rs1555984570
NM_000307.5(POU3F4):c.862_865del (p.Val289fs)	rs730882189
NM_000307.5(POU3F4):c.896del (p.Lys299fs)	rs267606974
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val)	rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp)	rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs)	rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly)	rs104894924
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser)	rs104894923

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