ClinVar Miner

List of variants studied for leukopenia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636 0.00006
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880 0.00001
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro) rs762470485
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg) rs2144135649
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs) rs2129763561

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