ClinVar Miner

List of variants reported as pathogenic by Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.138del (p.Arg46fs)
NM_001172509.2(SATB2):c.344_346+1dup
NM_001172509.2(SATB2):c.622dup (p.Ser208fs)
NM_015076.5(CDK19):c.82G>A (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.82G>C (p.Gly28Arg) rs1783519120
NM_015076.5(CDK19):c.94T>C (p.Tyr32His) rs1236246272

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