ClinVar Miner

List of variants studied for agranulocytosis by Klein lab, Ludwig-Maximilians-University

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter) rs786205705
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_156039.3(CSF3R):c.[1245delG];[948_963del16]

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