List of variants reported as pathogenic for hyperimmunoglobulinemia D with periodic fever by OMIM

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Total variants: 10

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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.803T>C (p.Ile268Thr)	rs104895304	0.00018
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	rs104895382	0.00007
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	rs104895317	0.00006
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	rs104895300	0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro)	rs104895295	0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_000431.4(MVK):c.421dup (p.Ala141fs)	rs104895323
NM_000431.4(MVK):c.494C>T (p.Pro165Leu)	rs121917790
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)	rs104895308

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