ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency

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Total variants: 3
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HGVS dbSNP
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409

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