ClinVar Miner

List of variants in gene MERTK reported as uncertain significance by Blueprint Genetics

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) rs199779970 0.00031
NM_006343.3(MERTK):c.2612T>C (p.Ile871Thr) rs377341255 0.00012
NM_006343.3(MERTK):c.263C>T (p.Ser88Leu) rs372527246 0.00004
NM_006343.3(MERTK):c.61+3G>C rs746981720 0.00003
NM_006343.3(MERTK):c.2159T>C (p.Leu720Pro) rs756205527 0.00002
NM_006343.3(MERTK):c.2486+6T>A rs772204397 0.00002
NM_006343.3(MERTK):c.2273G>A (p.Arg758His) rs370526555 0.00001
NM_006343.3(MERTK):c.2362G>A (p.Val788Met) rs769691218 0.00001
NM_006343.3(MERTK):c.842A>C (p.Lys281Thr) rs1374202092 0.00001
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.1670G>C (p.Arg557Pro) rs374078768
NM_006343.3(MERTK):c.2039A>C (p.His680Pro) rs749028235
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006343.3(MERTK):c.2775T>C (p.His925=) rs1677519296
NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala) rs1677520867

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