ClinVar Miner

List of variants studied for blood coagulation disease by Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)

Included ClinVar conditions (155):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_000064.4(C3):c.3326T>G (p.Leu1109Arg)
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)

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