List of variants in gene combination LOC127814297, POU4F3 reported as pathogenic for autosomal recessive disease

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_002700.3(POU4F3):c.184del (p.Ala62fs)	rs1760419273
NM_002700.3(POU4F3):c.37del (p.His13fs)
NM_002700.3(POU4F3):c.502del (p.Ala168fs)	rs766631025
NM_002700.3(POU4F3):c.54del (p.Glu18fs)	rs2126960889
NM_002700.3(POU4F3):c.564dup (p.Ala189fs)
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs)	rs1064792854
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro)	rs121909057
NM_002700.3(POU4F3):c.66del (p.Ser23fs)	rs2126960899
NM_002700.3(POU4F3):c.694G>T (p.Glu232Ter)	rs2126961780
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe)	rs121909056
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs)	rs398124631
NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter)	rs2126961983
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys)	rs398123070

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