ClinVar Miner

List of variants studied for Retinitis pigmentosa 38 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.02007
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) rs148261231 0.00304
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln) rs147779020 0.00003
NM_006343.3(MERTK):c.520A>T (p.Ile174Phe) rs775179251 0.00002
NM_006343.3(MERTK):c.1450+2T>G rs1573627154
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2162A>C (p.His721Pro) rs778005207
NM_006343.3(MERTK):c.756A>G (p.Pro252=) rs3761702

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