ClinVar Miner

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

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln) rs772203447 0.00001
NM_000552.5(VWF):c.7056C>T (p.Gly2352=) rs746482504 0.00001
NM_000130.5(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139027.6(ADAMTS13):c.330+1G>A rs375415632

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