ClinVar Miner

List of variants reported as likely benign for Retinitis pigmentosa-deafness syndrome

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_173477.5(USH1G):c.*1990A>G rs113905467 0.03761
NM_000260.3(MYO7A):c.*560C>T rs35776264 0.01078
NM_000260.3(MYO7A):c.*546C>T rs115812166 0.00459
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_173477.5(USH1G):c.*1168TG[6] rs746904393
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546

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