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

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp)	rs1250097723	0.00001
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	rs2103793713
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	rs1188328539

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