List of variants in gene PROM1 reported as likely pathogenic for PROM1-related recessive 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1883_1884del (p.Arg628fs)
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)	rs2149113303
NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter)	rs2149080351
NM_006017.3(PROM1):c.276+2T>C	rs2149407830
NM_006017.3(PROM1):c.509+1G>A
NM_006017.3(PROM1):c.622del (p.Thr208fs)	rs766246531

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