ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_001018837.2(HAX1):c.54-107del rs764082747
NM_001319945.2(G6PC3):c.210del (p.Phe71fs) rs769441127
NM_006118.3(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.407del (p.His136fs)
NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)
NM_156039.3(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_156039.3(CSF3R):c.1640G>A (p.Trp547Ter)
NM_156039.3(CSF3R):c.203_221del (p.Glu68fs)
NM_156039.3(CSF3R):c.799del (p.Glu267fs) rs759302795
NM_156039.3(CSF3R):c.935_963del (p.Arg311_Trp312insTer)

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