ClinVar Miner

List of variants studied for Retinitis pigmentosa 38 by Mendelics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr) rs7588635 0.04692
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) rs778383770 0.00001
NM_006343.3(MERTK):c.1296+1G>C rs774577413
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys) rs746291728
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491

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