List of variants in gene TRIP12 studied 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
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
NM_001348323.3(TRIP12):c.2651-25C>T	rs4972915	0.81767
NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=)	rs13018957	0.38821
NM_001348323.3(TRIP12):c.2651-39A>C	rs4973229	0.38648
NM_001348323.3(TRIP12):c.3482+15G>A	rs6720868	0.36718
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.1012C>T (p.Gln338Ter)
NM_001348323.3(TRIP12):c.1037A>G (p.Lys346Arg)	rs2056267716
NM_001348323.3(TRIP12):c.1090C>T (p.Arg364Trp)
NM_001348323.3(TRIP12):c.1133+21del	rs11373804
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.1439G>C (p.Gly480Ala)
NM_001348323.3(TRIP12):c.1510C>T (p.Gln504Ter)
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.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.2065C>T (p.Gln689Ter)
NM_001348323.3(TRIP12):c.2071G>A (p.Val691Ile)
NM_001348323.3(TRIP12):c.2096A>G (p.Asn699Ser)
NM_001348323.3(TRIP12):c.225-11T>C
NM_001348323.3(TRIP12):c.2273G>A (p.Cys758Tyr)
NM_001348323.3(TRIP12):c.2293G>A (p.Val765Ile)
NM_001348323.3(TRIP12):c.2378_2379insT (p.Val794fs)	rs2154275777
NM_001348323.3(TRIP12):c.2396A>G (p.Lys799Arg)
NM_001348323.3(TRIP12):c.2624del (p.Pro875fs)
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.2776G>T (p.Gly926Ter)	rs2154270715
NM_001348323.3(TRIP12):c.3088_3089del (p.Gly1030fs)
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter)	rs1575203936
NM_001348323.3(TRIP12):c.3204dup (p.Gly1069fs)	rs1553620494
NM_001348323.3(TRIP12):c.3206+408T>G	rs1461598857
NM_001348323.3(TRIP12):c.3207-7T>C
NM_001348323.3(TRIP12):c.3208C>T (p.Arg1070Ter)	rs1575161164
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.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.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.3808del (p.Ser1270fs)	rs2042881907
NM_001348323.3(TRIP12):c.3816+2T>A
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val)	rs764732335
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.4108G>A (p.Val1370Ile)
NM_001348323.3(TRIP12):c.4216-2A>G
NM_001348323.3(TRIP12):c.4277A>G (p.His1426Arg)
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.4609A>G (p.Ile1537Val)
NM_001348323.3(TRIP12):c.4610T>C (p.Ile1537Thr)
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	rs2154256586
NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)
NM_001348323.3(TRIP12):c.4838+2T>G	rs2040714903
NM_001348323.3(TRIP12):c.4861A>C (p.Thr1621Pro)
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)	rs1320218400
NM_001348323.3(TRIP12):c.488A>T (p.Gln163Leu)	rs1295583557
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)	rs2154255374
NM_001348323.3(TRIP12):c.4928C>A (p.Thr1643Asn)	rs2154255362
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)	rs1468657712
NM_001348323.3(TRIP12):c.4996-12_4996-2del
NM_001348323.3(TRIP12):c.5009G>A (p.Arg1670Gln)	rs1553602821
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
NM_001348323.3(TRIP12):c.5114C>T (p.Pro1705Leu)
NM_001348323.3(TRIP12):c.5231A>G (p.Tyr1744Cys)
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)	rs2154245501
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.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.5884C>T (p.His1962Tyr)
NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala)	rs1574632490
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)	rs2032214426
NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)
NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)	rs1387893497
NM_001348323.3(TRIP12):c.638_639del (p.Arg213fs)
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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