ClinVar Miner

List of variants reported as likely pathogenic for anemia by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
G6PD NARA rs587776730
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr) rs1748613571
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val) rs866575708
NM_198253.3(TERT):c.345C>G (p.Phe115Leu) rs1579598699
NR_001566.3(TERC):n.95G>C rs1777963668

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