List of variants in gene PROM1 reported as likely pathogenic for Retinal macular dystrophy type 2

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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.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)
NM_006017.3(PROM1):c.1975_1978del (p.Asn659fs)
NM_006017.3(PROM1):c.2366del (p.Asp789fs)

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