ClinVar Miner

List of variants reported as likely pathogenic for Clark-Baraitser syndrome

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)
NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs) rs2042881907
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.4838+2T>G rs2040714903
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp) rs1320218400
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln) rs2154255374
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) rs1468657712
NM_001348323.3(TRIP12):c.4996-12_4996-2del
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
NM_001348323.3(TRIP12):c.5114C>T (p.Pro1705Leu)
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) rs2154245501
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426

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