ClinVar Miner

List of variants in gene combination CDH23, PSAP reported as uncertain significance for Retinitis pigmentosa-deafness syndrome

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Total variants: 15
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HGVS dbSNP
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660

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