ClinVar Miner

List of variants in gene MERTK reported by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00045
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.2(MERTK):c.62_482dup
NM_006343.3(MERTK):c.2060G>T (p.Arg687Leu) rs775443181
NM_006343.3(MERTK):c.757+1G>A rs1573592124
NM_006343.3(MERTK):c.960+1G>A rs1573607809

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