ClinVar Miner

List of variants studied for blood coagulation disease by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) rs376606652 0.00001
NM_000130.5(F5):c.6048G>A (p.Met2016Ile)
NM_000377.3(WAS):c.990del (p.Ile331fs) rs2147266326
NM_021871.4(FGA):c.180G>A (p.Trp60Ter)
NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) rs1554795391

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