ClinVar Miner

List of variants studied for Retinitis pigmentosa 38 by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr) rs780214104 0.00006
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs) rs773105686 0.00003
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)
NM_006343.3(MERTK):c.2377del (p.Glu792_Ile793insTer)
NM_006343.3(MERTK):c.669G>A (p.Pro223=) rs750984679

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