ClinVar Miner

List of variants in gene MED17 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu) rs35313315 0.00877
NM_004268.5(MED17):c.690C>T (p.Leu230=) rs116727804 0.00502
NM_004268.5(MED17):c.1748G>A (p.Arg583His) rs548231700 0.00048
NM_004268.5(MED17):c.1449C>G (p.Gly483=) rs61754525 0.00004
NM_004268.5(MED17):c.1538C>T (p.Thr513Ile) rs761922335 0.00003
NM_004268.5(MED17):c.390C>G (p.Val130=) rs769907044 0.00001
NM_004268.5(MED17):c.1418C>T (p.Ser473Phe) rs587780393
NM_004268.5(MED17):c.337T>C (p.Tyr113His) rs1555031931
NM_004268.5(MED17):c.761C>T (p.Ser254Phe) rs369349413

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