List of variants in gene ALMS1 reported as likely pathogenic for Leber congenital amaurosis

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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_001378454.1(ALMS1):c.3345dup (p.Leu1116fs)	rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)	rs2103781993
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)	rs2103889898

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