ClinVar Miner

List of variants studied for agranulocytosis by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A rs180177366 0.00010
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe) rs374298481 0.00004
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr) rs1044976516 0.00003
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
NM_001164277.2(SLC37A4):c.1124+1G>C rs782630676
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) rs1447366650
NM_024598.4(USB1):c.623A>G (p.His208Arg) rs1249059283
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.2515+16591C>G
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter) rs2130702734

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