ClinVar Miner

List of variants studied for Cone-rod dystrophy 13 by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.1628T>C (p.Met543Thr) rs1007825048 0.00001
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740

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