ClinVar Miner

List of variants studied for Clark-Baraitser syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.3671_3672del (p.Val1223_Ser1224insTer) rs1553614300
NM_001348323.3(TRIP12):c.3968+1G>A rs1553612358
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln) rs1553602821
NM_001348323.3(TRIP12):c.586_587del (p.Ser196fs) rs1553704327

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