ClinVar Miner

List of variants studied for Cone-rod dystrophy 12 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881

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