ClinVar Miner

List of variants in gene NBEAL2 reported as likely pathogenic for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_015175.2(NBEAL2):c.1860del (p.Ala621fs) rs1235183015
NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.2(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744

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