ClinVar Miner

List of variants studied for bone marrow disorder by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter) rs539460201
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs) rs1580526958
NM_001085487.3(MYSM1):c.869C>G (p.Ser290Ter) rs1569770360

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