ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00270
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000175.5(GPI):c.1269+1G>A
NM_000289.6(PFKM):c.238-3A>G
NM_001360016.2(G6PD):c.[376A>G;968T>C]

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