ClinVar Miner

List of variants reported as pathogenic by Birmingham Platelet Group; University of Birmingham

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000419.5(ITGA2B):c.2176A>T (p.Lys726Ter) rs2048557402
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_001129820.2(SLFN14):c.3_4insCTAGTCGACTATA (p.Glu2fs) rs2072671208
NM_001377304.1(GFI1B):c.814+1G>A rs1849228141
NM_001754.5(RUNX1):c.317G>A (p.Trp106Ter) rs2057998110
NM_001754.5(RUNX1):c.351+1G>T rs1060502579
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.98-1G>A rs2058006300
NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) rs1437274494
NM_002017.5(FLI1):c.992_995del (p.Asn331fs) rs1064797085
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) rs80338835
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA rs771084683
NM_015175.3(NBEAL2):c.6801+1G>C rs1285731171
NM_139027.6(ADAMTS13):c.1315G>T (p.Glu439Ter) rs748223519

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