ClinVar Miner

List of variants in gene CCDC12, NBEAL2 studied for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.-178G>A rs892777590 0.00006
NM_015175.3(NBEAL2):c.-76G>A rs886058588 0.00004
NM_015175.3(NBEAL2):c.-162C>T rs886058587 0.00001
NM_015175.3(NBEAL2):c.-120C>G rs1011004600
NM_015175.3(NBEAL2):c.-14_-9dup rs764010884
NM_015175.3(NBEAL2):c.37C>T (p.Leu13Phe)
NM_015175.3(NBEAL2):c.51+11C>T rs886058590

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