ClinVar Miner

List of variants reported as pathogenic for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729

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