List of variants in gene combination CCDC12, NBEAL2 reported as uncertain significance for gray platelet syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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