ClinVar Miner

List of variants in gene combination CCDC12, NBEAL2 reported as uncertain significance 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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HGVS dbSNP
NM_015175.2(NBEAL2):c.-14_-9dup rs764010884
NM_015175.2(NBEAL2):c.-162C>T rs886058587
NM_015175.2(NBEAL2):c.-76G>A rs886058588
NM_015175.2(NBEAL2):c.51+11C>T rs886058590
NM_015175.3(NBEAL2):c.-120C>G
NM_015175.3(NBEAL2):c.-178G>A

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