ClinVar Miner

List of variants in gene combination SPECC1L, SPECC1L-ADORA2A reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015330.6(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872

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