ClinVar Miner

List of variants reported as likely pathogenic for coagulation protein disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504

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