ClinVar Miner

List of variants studied for Retinitis pigmentosa and erythrocytic microcytosis

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu) rs334773 0.90803
NM_182916.3(TRNT1):c.148+38A>G rs334772 0.90454
NM_182916.3(TRNT1):c.948A>G (p.Ala316=) rs1705805 0.74013
NM_182916.3(TRNT1):c.1056+11A>G rs1669348 0.53660
NM_182916.3(TRNT1):c.609-26T>C rs876661299 0.00001
NM_182916.3(TRNT1):c.1252del (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs) rs876661298
NM_182916.3(TRNT1):c.128_130del (p.Glu43del) rs876661297
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_182916.3(TRNT1):c.565C>A (p.Gln189Lys) rs1705873011

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