ClinVar Miner

List of variants studied for Retinitis pigmentosa-deafness syndrome by Mendelics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) rs3747869 0.90370
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) rs3747862 0.36326
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059

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