ClinVar Miner

List of variants in gene LOC112806037, MERTK studied for retinal disorder

Included ClinVar conditions (500):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser) rs34943572 0.00031
NM_006343.3(MERTK):c.996C>G (p.Val332=) rs886054757 0.00001
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter) rs868566811
NM_006343.3(MERTK):c.961-1G>T rs1676223605
NM_006343.3(MERTK):c.978G>A (p.Pro326=)
NM_006343.3(MERTK):c.989G>A (p.Gly330Asp)
NM_006343.3(MERTK):c.992_993del (p.Ser331fs) rs1573613491

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