List of variants in gene POU1F1 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000306.4(POU1F1):c.143-2A>G	rs746709336	0.00001
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)	rs104893764	0.00001
NM_000306.4(POU1F1):c.142+1G>T	rs768155224
NM_000306.4(POU1F1):c.142+2T>C
NM_000306.4(POU1F1):c.143-1G>A
NM_000306.4(POU1F1):c.143-64T>G	rs1064796954
NM_000306.4(POU1F1):c.440-1G>A
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	rs104893765
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu)	rs104893757
NM_000306.4(POU1F1):c.747del (p.Glu250fs)	rs587776798
NM_000306.4(POU1F1):c.793C>T (p.Arg265Trp)

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