ClinVar Miner

List of variants studied for blood coagulation disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000488.4(SERPINC1):c.1366G>C (p.Gly456Arg)

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