ClinVar Miner

List of variants studied for Cone-rod dystrophy 13 by GeneReviews

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu) rs28937883

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