ClinVar Miner

List of variants reported as likely benign for Retinitis pigmentosa-deafness syndrome by Illumina Clinical Services Laboratory,Illumina

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Total variants: 16
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HGVS dbSNP
NM_000260.3(MYO7A):c.*546C>T rs115812166
NM_000260.3(MYO7A):c.*560C>T rs35776264
NM_002778.4(PSAP):c.*891G>A rs7869
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_173477.5(USH1G):c.*1168_*1169TG[6] rs746904393
NM_173477.5(USH1G):c.*1990A>G rs113905467
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546

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