ClinVar Miner

List of variants reported as likely pathogenic for hyperimmunoglobulinemia D with periodic fever by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.830G>A (p.Arg277His)	rs104895352	0.00002
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)	rs104895364	0.00001
NM_000431.4(MVK):c.943_944del (p.Leu315fs)	rs776735249

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