List of variants in gene PROM1 reported as pathogenic for GUCY2D retinopathy

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_006017.3(PROM1):c.139del (p.His47fs)	rs747512450
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)	rs1300041533
NM_006017.3(PROM1):c.784+1G>A	rs745704627

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