ClinVar Miner

List of variants studied for hematologic disorder by Department of Laboratory Medicine, Ruijin Hospital

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.2547-13T>A rs2136430770
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg) rs2136430552
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.322A>T (p.Arg108Ter) rs2136522667
NM_000552.5(VWF):c.323+1G>T rs2136522662
NM_000552.5(VWF):c.5171-9del rs199893035
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.8116-2del rs2136338765

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