ClinVar Miner

List of variants in gene MERTK reported as likely pathogenic for Retinitis pigmentosa 38

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.1296+1G>A rs774577413 0.00006
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val) rs778383770 0.00001
NM_006343.3(MERTK):c.1296+5G>A rs1553454799
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.1450+2T>G rs1573627154
NM_006343.3(MERTK):c.2162A>C (p.His721Pro) rs778005207
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser) rs863224894
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter) rs527236134
NM_006343.3(MERTK):c.56_61+15del rs2104652801
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser) rs1573592033

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