ClinVar Miner

List of variants in gene combination IQCG, RPL35A reported as likely pathogenic for aplastic anemia

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000003.11:g.(?_197680864)_(197682644_?)del
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.164+1G>A rs113752862
NM_000996.4(RPL35A):c.165-16_166del
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr) rs1720051488

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