ClinVar Miner

List of variants reported as likely benign for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732 0.00032
NM_032492.4(JAGN1):c.189G>A (p.Leu63=) rs748678543 0.00006
NM_032492.4(JAGN1):c.27G>A (p.Ala9=) rs764805098 0.00003
NM_032492.4(JAGN1):c.12A>G (p.Arg4=) rs377365266 0.00002
NM_032492.4(JAGN1):c.30C>T (p.Ala10=) rs549030325 0.00002
NM_032492.4(JAGN1):c.432C>T (p.Ala144=) rs766336706 0.00002
NM_032492.4(JAGN1):c.480C>T (p.Ala160=) rs779442557 0.00002
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) rs201225696 0.00002
NM_032492.4(JAGN1):c.117G>A (p.Lys39=) rs763900045 0.00001
NM_032492.4(JAGN1):c.123C>A (p.Ile41=) rs140024249 0.00001
NM_032492.4(JAGN1):c.168C>T (p.Ser56=) rs1265469155 0.00001
NM_032492.4(JAGN1):c.330T>C (p.Phe110=) rs2082574589 0.00001
NM_032492.4(JAGN1):c.39C>T (p.Asp13=) rs751452713 0.00001
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys) rs200485958 0.00001
NM_032492.4(JAGN1):c.90-9G>C rs762370289 0.00001
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
NM_032492.4(JAGN1):c.120G>A (p.Leu40=) rs2082572609
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
NM_032492.4(JAGN1):c.138C>T (p.Val46=) rs528473640
NM_032492.4(JAGN1):c.159T>C (p.Ala53=) rs201196372
NM_032492.4(JAGN1):c.186C>G (p.Leu62=) rs776988033
NM_032492.4(JAGN1):c.264C>T (p.Gly88=)
NM_032492.4(JAGN1):c.279C>T (p.Pro93=) rs1444280254
NM_032492.4(JAGN1):c.327C>G (p.Leu109=)
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
NM_032492.4(JAGN1):c.525C>G (p.Thr175=)
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)
NM_032492.4(JAGN1):c.57C>T (p.His19=) rs2082556963
NM_032492.4(JAGN1):c.78C>T (p.His26=)
NM_032492.4(JAGN1):c.89+15G>T
NM_032492.4(JAGN1):c.90-13C>G
NM_032492.4(JAGN1):c.90-16C>T
NM_032492.4(JAGN1):c.90-18C>G rs371744656

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