ClinVar Miner

List of variants reported as pathogenic for anemia by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869 0.00003
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) rs2139596300

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