ClinVar Miner

List of variants studied for hematologic disorder by Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001085487.3(MYSM1):c.1467C>G (p.Tyr489Ter) rs1361904700
NM_001085487.3(MYSM1):c.399G>A (p.Leu133=) rs1644867065

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