ClinVar Miner

List of variants studied for anemia by Genomics Facility, Ludwig-Maximilians-Universität München

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_138636.5(TLR8):c.1715G>T (p.Gly572Val) rs1385657144
NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser) rs997809680

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