ClinVar Miner

List of variants in gene CLCN1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 9
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HGVS dbSNP
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.3(CLCN1):c.1401+17T>C rs7794560
NM_000083.3(CLCN1):c.180+3A>T rs202217420
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140

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