ClinVar Miner

List of variants reported as not provided for Cone-rod dystrophy 13 by GeneReviews

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Show significances as they were submitted (without aggregation into standard terms)
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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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