ClinVar Miner

List of variants reported as pathogenic for leukopenia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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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_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter) rs120074151 0.00004
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs) rs747217399 0.00001
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673 0.00001
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs) rs755338751 0.00001
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) rs1182102272
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter) rs104893624
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter) rs104893626
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs) rs386834058
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter) rs1563700205
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.6865+1G>T rs202046738

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