ClinVar Miner

List of variants in gene JAGN1 reported as uncertain significance for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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Total variants: 10
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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.172G>A (p.Gly58Arg) rs919986813
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085
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.541A>C (p.Lys181Gln) rs754191323
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)

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