ClinVar Miner

List of variants reported as pathogenic for constitutional neutropenia by Natera, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490 0.00008
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter) rs144539572 0.00008
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892 0.00003
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter) rs902775927 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104 0.00002
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter) rs180177365 0.00002
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter) rs386834113 0.00002
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter) rs120074152 0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter) rs120074150 0.00001
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter) rs386834107 0.00001
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter) rs121908975
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001164277.2(SLC37A4):c.381+1G>T rs786204637
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter) rs996440530
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs) rs386834098
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs) rs886041323
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs) rs761736983
NM_152564.5(VPS13B):c.6865+1G>T rs202046738
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
NM_152564.5(VPS13B):c.9331-1G>T rs386834119
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs) rs886041185

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