ClinVar Miner

List of variants in gene combination ADAMTS18, LOC126862407 reported as uncertain significance for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_199355.4(ADAMTS18):c.3463C>T (p.Arg1155Trp)	rs143681049	0.00023
NM_199355.4(ADAMTS18):c.3419G>T (p.Gly1140Val)	rs1567453873	0.00001

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