ClinVar Miner

List of variants studied for leukopenia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_183235.3(RAB27A):c.239+1G>T rs761810607 0.00002
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val) rs1218762595 0.00002
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881 0.00001
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) rs121908978 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.7556A>T (p.Tyr2519Phe)
NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs) rs782501672
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)
NM_001972.4(ELANE):c.392C>G (p.Ala131Gly)
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) rs1555710089
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
NM_006118.4(HAX1):c.379G>T (p.Asp127Tyr)
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile)
NM_183235.3(RAB27A):c.154del

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