ClinVar Miner

List of variants reported as pathogenic for autosomal recessive severe congenital neutropenia by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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G6PC3, 1-BP DUP, 935T
HAX1, 1-BP DEL, 91G
HAX1, 1-BP INS, 431G
HAX1, 59-BP DEL, NT376
NM_000760.4(CSF3R):c.1245del (p.Thr416fs) rs606231474
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_000760.4(CSF3R):c.948_963del (p.His317fs) rs606231475
NM_006118.3(HAX1):c.256C>T (p.Arg86Ter) rs121908165
NM_006118.3(HAX1):c.568C>T (p.Gln190Ter) rs74315322
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909
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
NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter) rs118203970
NM_138387.3(G6PC3):c.346A>G (p.Met116Val) rs267606834
NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro) rs118203969
NM_138387.3(G6PC3):c.758G>A (p.Arg253His) rs118203968
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138387.3(G6PC3):c.784G>C (p.Gly262Arg) rs118203971
NM_156039.3(CSF3R):c.1640G>A (p.Trp547Ter)
NM_156039.3(CSF3R):c.998-2A>T rs879253750

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