List of variants reported as uncertain significance for alpha granule disease by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)	rs1362658024	0.00001
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)	rs1320380958	0.00001
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)	rs1203437621
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro)	rs1575602690
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)	rs1320075072
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)	rs2036808727
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)	rs1001207491
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)	rs771025246
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)	rs2037277207
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu)	rs1575623184
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro)	rs377326649
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)	rs1405730457
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)	rs2037641398

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