ClinVar Miner

List of variants reported as uncertain significance for Clark-Baraitser syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):

Clark-Baraitser syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp)	rs772399122	0.00001
NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg)	rs2056267716
NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr)	rs771031325

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