List of variants in gene PROM1 reported as pathogenic by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	rs2149234796
NM_006017.3(PROM1):c.1579-3T>G	rs1355865032
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	rs1324631413
NM_006017.3(PROM1):c.784+1G>A	rs745704627

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