ClinVar Miner

List of variants studied for blood coagulation disease by Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) rs368111193 0.00006
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) rs2143427606
NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) rs2143427279
NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) rs1477253720

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