ClinVar Miner

List of variants studied for hematologic disorder by Precision Medicine Center, Zhengzhou University

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)

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