ClinVar Miner

List of variants in gene MED17 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_004268.5(MED17):c.251-8C>T rs148912294 0.00585
NM_004268.5(MED17):c.1500G>A (p.Glu500=) rs76149470 0.00578
NM_004268.5(MED17):c.1328+16G>A rs200391569 0.00034
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro) rs267607232
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs) rs763249105
NM_004268.5(MED17):c.1360C>T (p.Arg454Ter) rs776884086
NM_004268.5(MED17):c.325A>C (p.Met109Leu) rs144529403

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