ClinVar Miner

List of variants studied for leukopenia by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) rs80356491 0.00026
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter) rs1444468055 0.00001
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461

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