ClinVar Miner

List of variants in gene ABCA5 reported as likely pathogenic for gingival fibromatosis-hypertrichosis syndrome

Included ClinVar conditions (1):

Gingival fibromatosis-hypertrichosis syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_172232.4(ABCA5):c.1632_1633del (p.Arg544fs)
NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)
NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)

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