ClinVar Miner

List of variants in gene SPINK5 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 5
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HGVS dbSNP
NC_000005.9:g.147480899G>A
NM_006846.3(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067
NM_006846.3(SPINK5):c.1659C>T (p.Val553=) rs2303071
NM_006846.3(SPINK5):c.2441+7A>G rs794727403
NM_006846.3(SPINK5):c.2494_2511ACAGGAGAAAGGAGCAAT[1] (p.832_837TGERSN[1]) rs554634510

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