List of variants in gene combination LOC127814297, POU4F3 reported as likely pathogenic for not provided

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002700.3(POU4F3):c.118C>T (p.Gln40Ter)	rs1554087566
NM_002700.3(POU4F3):c.502del (p.Ala168fs)	rs766631025
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro)	rs1760429451
NM_002700.3(POU4F3):c.703_704del (p.Thr235fs)
NM_002700.3(POU4F3):c.848C>T (p.Ala283Val)	rs759091617
NM_002700.3(POU4F3):c.886C>T (p.Gln296Ter)	rs2126961983
NM_002700.3(POU4F3):c.904G>T (p.Glu302Ter)
NM_002700.3(POU4F3):c.982A>G (p.Lys328Glu)

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