ClinVar Miner

List of variants reported as uncertain significance for Curry-Hall syndrome by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.2449+8del rs886059507

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