ClinVar Miner

Submissions for variant NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln)

gnomAD frequency: 0.00009  dbSNP: rs137955120
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024615 SCV000050481 risk factor Neural tube defects, susceptibility to 2011-11-15 no assertion criteria provided literature only

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