ClinVar Miner

List of variants in gene CLCN1 reported by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319

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