ClinVar Miner

List of variants in gene JAGN1 studied for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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Total variants: 20
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HGVS dbSNP
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085
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.403G>A (p.Ala135Thr) rs61746084
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) rs754191323
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)

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