ClinVar Miner

List of variants studied for blood coagulation disease by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter)

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