ClinVar Miner

List of variants studied for Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome by Division of Pediatric Neurology, Department of Pediatrics, University Hospital Cologne

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1123C>T (p.Gln375Ter) rs2130231971
NM_078480.3(PUF60):c.1658A>G (p.Asp553Gly)
NM_078480.3(PUF60):c.206del (p.Lys69fs)
NM_078480.3(PUF60):c.510+1G>T rs1816618311
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)

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