ClinVar Miner

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

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004268.5(MED17):c.1092G>A (p.Pro364=) rs34057693 0.11178
NM_004268.5(MED17):c.516C>T (p.Thr172=) rs7119915 0.05663
NM_004268.5(MED17):c.342T>C (p.Asp114=) rs16919376 0.05535
NM_004268.5(MED17):c.1548T>C (p.Tyr516=) rs16919389 0.04492
NM_004268.5(MED17):c.1260A>G (p.Ser420=) rs36120755 0.03633
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_004268.5(MED17):c.1071T>A (p.Phe357Leu) rs35313315 0.00877
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.690C>T (p.Leu230=) rs116727804 0.00502
NM_004268.5(MED17):c.978G>C (p.Val326=) rs2276311 0.00300
NM_004268.5(MED17):c.1748G>A (p.Arg583His) rs548231700 0.00048
NM_004268.5(MED17):c.1752T>C (p.Asn584=) rs138934738 0.00015
NM_004268.5(MED17):c.1209G>A (p.Lys403=) rs534953424 0.00009
NM_004268.5(MED17):c.1449C>G (p.Gly483=) rs61754525 0.00004
NM_004268.5(MED17):c.571C>T (p.Arg191Trp) rs587780394 0.00004
NM_004268.5(MED17):c.1538C>T (p.Thr513Ile) rs761922335 0.00003
NM_004268.5(MED17):c.330T>C (p.Cys110=) rs1012490915 0.00001
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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