ClinVar Miner

List of variants in gene TRIP12 reported as pathogenic for Clark-Baraitser syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.1012C>T (p.Gln338Ter)
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter) rs1553636520
NM_001348323.3(TRIP12):c.1684C>T (p.Arg562Ter) rs1575419803
NM_001348323.3(TRIP12):c.1787_1800del (p.Met596fs)
NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter)
NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs) rs2154275777
NM_001348323.3(TRIP12):c.2624del (p.Pro875fs)
NM_001348323.3(TRIP12):c.2776G>T (p.Gly926Ter) rs2154270715
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter) rs1575203936
NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs) rs1553620494
NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter) rs1575161164
NM_001348323.3(TRIP12):c.3482+1G>A rs1553616463
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs) rs2043184881
NM_001348323.3(TRIP12):c.3551del (p.Asn1184fs)
NM_001348323.3(TRIP12):c.3671_3672del (p.Val1223_Ser1224insTer) rs1553614300
NM_001348323.3(TRIP12):c.3816+2T>A
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
NM_001348323.3(TRIP12):c.3968+1G>A rs1553612358
NM_001348323.3(TRIP12):c.399dup (p.Pro134fs) rs2060119917
NM_001348323.3(TRIP12):c.4216-2A>G
NM_001348323.3(TRIP12):c.4317del (p.Gln1440fs)
NM_001348323.3(TRIP12):c.4318C>T (p.Gln1440Ter)
NM_001348323.3(TRIP12):c.4368dup (p.Asn1457fs) rs2041642562
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs) rs2154256586
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) rs1553602821
NM_001348323.3(TRIP12):c.5452_5453delinsAAACAAATTGTAAATTGTACCA (p.Pro1818fs)
NM_001348323.3(TRIP12):c.5459dup (p.Ala1821fs) rs2036605188
NM_001348323.3(TRIP12):c.5538_5566del (p.Glu1846fs)
NM_001348323.3(TRIP12):c.5675del (p.Asn1892fs)
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) rs1553704327
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu) rs2032214426
NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)

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