ClinVar Miner

List of variants in gene SMARCAL1 reported as likely pathogenic for Inherited Immunodeficiency Diseases

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Total variants: 3
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HGVS dbSNP
NM_014140.3(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381
NM_014140.4(SMARCAL1):c.1146_1147+2del rs1574450161
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300

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