ClinVar Miner

List of variants in gene PROM1 reported as benign for Retinitis pigmentosa

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578

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