ClinVar Miner

List of variants in gene RBPJL reported as benign by Diabetes Molecular Genetics Section, Phoenix Epidemiology and Clinical Research Branch, National Institutes of Health

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000020.11:g.45324436T>G rs720063 0.44729
NC_000020.11:g.45319581A>C rs11698812 0.24897
NC_000020.11:g.45279237T>C rs79312216 0.05422
NM_014276.4(RBPJL):c.132-389T>C rs2076027 0.04512
NM_014276.4(RBPJL):c.759T>C (p.Ala253=) rs2076026 0.03721
NC_000020.11:g.45157150A>G rs143311170 0.00366
NC_000020.11:g.45324681_45324682del rs33961254
NM_014276.4(RBPJL):c.1333G>A (p.Asp445Asn) rs1555859311

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