ClinVar Miner

List of variants studied for Clark-Baraitser syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) rs2041642562

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