ClinVar Miner

Submissions for variant NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln)

gnomAD frequency: 0.00004  dbSNP: rs146357218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive and Child Health, Peking University RCV000853418 SCV000898496 affects Neural tube defect no assertion criteria provided case-control

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