ClinVar Miner

List of variants studied for MERTK-related retinopathy by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_006343.3(MERTK):c.1605-2A>G rs730880273 0.00002
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter) rs119489105 0.00001
NC_000002.10:g.112364620_112455677del
NG_011607.1:g.(86577_89228)_(89381_96385)del
NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs) rs1573638426
NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter) rs387907314
NM_006343.3(MERTK):c.61+1G>A rs1573554264

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