ClinVar Miner

List of variants studied for Immunodeficiency 82 with systemic inflammation

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003177.7(SYK):c.1417G>C (p.Glu473Gln) rs2118893859 0.00001
NM_003177.7(SYK):c.688G>A (p.Glu230Lys) rs200498885 0.00001
NM_003177.7(SYK):c.1024C>A (p.Pro342Thr) rs1827861920
NM_003177.7(SYK):c.1301G>A (p.Arg434Gln) rs2118888231
NM_003177.7(SYK):c.163G>A (p.Val55Met)
NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr) rs1828636794
NM_003177.7(SYK):c.1649C>T (p.Ser550Phe) rs1828636794
NM_003177.7(SYK):c.476C>T (p.Ala159Val)

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