ClinVar Miner

List of variants studied for anemia due to erythrocyte enzyme disorder by GeneReviews

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000375.2(UROS):c.-219C>A rs4385801
NM_000375.2(UROS):c.-26-183G>A rs397515349
NM_000375.2(UROS):c.139T>C (p.Ser47Pro) rs397515527
NM_000375.2(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.2(UROS):c.217T>C (p.Cys73Arg) rs121908012
NM_000375.2(UROS):c.244G>T (p.Val82Phe) rs121908016
NM_000375.2(UROS):c.311C>T (p.Ala104Val) rs397515528
NM_000375.2(UROS):c.673G>A (p.Gly225Ser) rs121908020
NM_001324036.1(UROS):c.-26-177T>C rs397515348
NM_001324036.1(UROS):c.-26-197C>A rs397515351

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