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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	rs104895317	0.00006
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)	rs104895360	0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)	rs104895311	0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)	rs104895366	0.00001

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