ClinVar Miner

List of variants studied for Immunodeficiency 72 with autoinflammation by SIB Swiss Institute of Bioinformatics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911

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