ClinVar Miner

List of variants studied for anemia by MVZ Dr. Eberhard & Partner Dortmund

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6788+11C>T rs779537034 0.00002
NM_001355436.2(SPTB):c.4063G>T (p.Glu1355Ter) rs1566754467
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs) rs1555366592
NM_003126.4(SPTA1):c.1850dup (p.Ser618fs) rs1553234309

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