ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP
NM_015404.4(WHRN):c.1091= (p.His364=) rs10817610
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.4(WHRN):c.2256= (p.Gln752=) rs6478078
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4846-16805A>C rs3747869
NM_022124.6(CDH23):c.4846-4260A>G rs3747862
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140

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