ClinVar Miner

List of variants studied for hyperimmunoglobulinemia D with periodic fever by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (3):
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Total variants: 5
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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.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001

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