ClinVar Miner

List of variants studied for blood coagulation disease by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_000313.4(PROS1):c.1323_1323+1del rs1708347661
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn) rs762953695

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