ClinVar Miner

List of variants studied for blood coagulation disease by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_021870.3(FGG):c.207_208dup (p.Glu70fs) rs2110850824

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