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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 49

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HGVS	dbSNP	gnomAD frequency
NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val)	rs780999801	0.00003
NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu)	rs779389307	0.00002
NM_001348323.3(TRIP12):c.2038A>G (p.Asn680Asp)	rs772399122	0.00001
NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe)	rs1305168076	0.00001
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys)	rs1157793506	0.00001
NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly)	rs749300014	0.00001
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr)	rs539119124	0.00001
NM_001348323.3(TRIP12):c.78A>C (p.Gln26His)	rs1046355070	0.00001
NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala)	rs986636922	0.00001
NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg)	rs2056267716
NM_001348323.3(TRIP12):c.1090C>T (p.Arg364Trp)
NM_001348323.3(TRIP12):c.1160G>A (p.Arg387Lys)	rs2054983988
NM_001348323.3(TRIP12):c.1177C>T (p.Arg393Cys)
NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu)	rs2060290263
NM_001348323.3(TRIP12):c.1381C>A (p.Pro461Thr)	rs771031325
NM_001348323.3(TRIP12):c.1823C>T (p.Ala608Val)
NM_001348323.3(TRIP12):c.1922C>T (p.Thr641Met)
NM_001348323.3(TRIP12):c.2009C>T (p.Thr670Ile)
NM_001348323.3(TRIP12):c.2096A>G (p.Asn699Ser)
NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)
NM_001348323.3(TRIP12):c.2396A>G (p.Lys799Arg)
NM_001348323.3(TRIP12):c.3206+408T>G	rs1461598857
NM_001348323.3(TRIP12):c.3207-7T>C
NM_001348323.3(TRIP12):c.329A>G (p.Asn110Ser)
NM_001348323.3(TRIP12):c.3399C>G (p.Asn1133Lys)
NM_001348323.3(TRIP12):c.3434G>T (p.Gly1145Val)	rs2154266281
NM_001348323.3(TRIP12):c.3725T>C (p.Leu1242Pro)	rs2154264253
NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp)	rs1268798250
NM_001348323.3(TRIP12):c.3782T>C (p.Leu1261Ser)
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val)	rs764732335
NM_001348323.3(TRIP12):c.4108G>A (p.Val1370Ile)
NM_001348323.3(TRIP12):c.4277A>G (p.His1426Arg)
NM_001348323.3(TRIP12):c.4610T>C (p.Ile1537Thr)
NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)
NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)
NM_001348323.3(TRIP12):c.488A>T (p.Gln163Leu)	rs1295583557
NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn)	rs2154255362
NM_001348323.3(TRIP12):c.5231A>G (p.Tyr1744Cys)
NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val)	rs1428800056
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu)	rs2036612429
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348323.3(TRIP12):c.5884C>T (p.His1962Tyr)
NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala)	rs1574632490
NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)
NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)	rs1387893497
NM_001348323.3(TRIP12):c.692G>C (p.Gly231Ala)
NM_001348323.3(TRIP12):c.8A>C (p.Asn3Thr)
NM_001348323.3(TRIP12):c.935T>G (p.Val312Gly)
NM_001348323.3(TRIP12):c.964C>A (p.Pro322Thr)

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