ClinVar Miner

List of variants in gene VPS45 reported as benign for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419 0.03652
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370 0.03643
NM_007259.5(VPS45):c.290-14C>T rs148026724 0.00735
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868 0.00487
NM_007259.5(VPS45):c.937-16G>A rs193195913 0.00191
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399 0.00091
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527 0.00076
NM_007259.5(VPS45):c.1626-14A>C rs201279066 0.00076
NM_007259.5(VPS45):c.897A>G (p.Pro299=) rs184193549 0.00010
NM_007259.5(VPS45):c.1371+9A>T rs368568806
NM_007259.5(VPS45):c.1372-3del
NM_007259.5(VPS45):c.229-5dup rs781925027
NM_007259.5(VPS45):c.439-10dup
NM_007259.5(VPS45):c.439-2del rs782005099
NM_007259.5(VPS45):c.937-11del

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