ClinVar Miner

List of variants in gene IMPG2 studied for Retinitis Pigmentosa, Recessive

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016247.4(IMPG2):c.335-16_335-15del rs756480190 0.00013
NM_016247.4(IMPG2):c.*45G>A rs377140286 0.00004
NM_016247.4(IMPG2):c.*4060C>A rs886057665 0.00001
NM_016247.4(IMPG2):c.*2566del rs886057672
NM_016247.4(IMPG2):c.*3625GTTTT[1] rs886057666
NM_016247.4(IMPG2):c.*430T>C rs886057683
NM_016247.4(IMPG2):c.*551dup rs886057682
NM_016247.4(IMPG2):c.*685_*726delinsGTGC rs886057681
NM_016247.4(IMPG2):c.*690TA[24] rs66908707
NM_016247.4(IMPG2):c.*690TA[25] rs66908707
NM_016247.4(IMPG2):c.*690TA[26] rs66908707
NM_016247.4(IMPG2):c.*690TA[29] rs66908707
NM_016247.4(IMPG2):c.*836A>G rs886057676
NM_016247.4(IMPG2):c.534-13dup rs567795716

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