ClinVar Miner

List of variants reported as likely benign for anemia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788

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