List of variants in gene ALMS1 studied for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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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.3345dup (p.Leu1116fs)	rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs)	rs2103781993
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs)	rs2103793713
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs)	rs2103889898
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter)	rs1188328539

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