ClinVar Miner

List of variants studied for alpha granule disease by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.2(NBEAL2):c.1860del (p.Ala621fs) rs1235183015
NM_015175.2(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.2(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.2(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.2(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630
NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)
NM_015175.3(NBEAL2):c.2650-1G>A
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)
NM_015175.3(NBEAL2):c.4485-1G>T
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
NM_015175.3(NBEAL2):c.6920-1G>C
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)
Single allele

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