List of variants in gene PROM1 reported as likely benign 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	rs140027620	0.00608
NM_006017.3(PROM1):c.1911+14G>A	rs79077926	0.00565
NM_006017.3(PROM1):c.1683-3C>T	rs143470288	0.00518
NM_006017.3(PROM1):c.*684C>T	rs140362696	0.00496
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)	rs113895168	0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)	rs149028760	0.00222
NM_006017.3(PROM1):c.-25T>A	rs149845694	0.00194
NM_006017.3(PROM1):c.1579-6T>C	rs181261277	0.00190
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	rs182096110	0.00128
NM_006017.3(PROM1):c.678G>A (p.Ala226=)	rs187116049	0.00020
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	rs146434364	0.00010
NM_006017.3(PROM1):c.*1052G>A	rs577484119	0.00004

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