ClinVar Miner

List of variants in gene combination MMACHC, PRDX1 reported as pathogenic for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
NM_181697.3(PRDX1):c.515-2A>T rs1379672870

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