List of variants in gene TNXB reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 80

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HGVS	dbSNP	gnomAD frequency
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)	rs200519530	0.00088
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp)	rs201647307	0.00076
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)	rs185207099	0.00067
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)	rs41270454	0.00041
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile)	rs201649053	0.00035
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)	rs201922477	0.00031
NM_001365276.2(TNXB):c.5084C>T (p.Thr1695Met)	rs201973085	0.00029
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met)	rs200432719	0.00028
NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)	rs200522966	0.00024
NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)	rs376639281	0.00019
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser)	rs770149701	0.00015
NM_001365276.2(TNXB):c.7694C>T (p.Ala2565Val)	rs199719197	0.00013
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)	rs529485424	0.00013
NM_001365276.2(TNXB):c.3038G>A (p.Arg1013His)	rs200322894	0.00012
NM_001365276.2(TNXB):c.2390G>A (p.Arg797Gln)	rs201123945	0.00011
NM_001365276.2(TNXB):c.2540G>A (p.Arg847Gln)	rs200283439	0.00009
NM_001365276.2(TNXB):c.10454A>G (p.Asp3485Gly)	rs371565354	0.00007
NM_001365276.2(TNXB):c.147G>A (p.Gly49=)	rs370126465	0.00006
NM_001365276.2(TNXB):c.5780T>C (p.Ile1927Thr)	rs751320202	0.00006
NM_001365276.2(TNXB):c.2224G>A (p.Gly742Ser)	rs372262597	0.00005
NM_001365276.2(TNXB):c.4866C>T (p.Pro1622=)	rs571254395	0.00005
NM_001365276.2(TNXB):c.6469C>T (p.Arg2157Cys)	rs369153948	0.00005
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)	rs753102887	0.00005
NM_001365276.2(TNXB):c.1405G>T (p.Asp469Tyr)	rs779793236	0.00004
NM_001365276.2(TNXB):c.9727G>A (p.Val3243Met)	rs770130227	0.00004
NM_001365276.2(TNXB):c.8301C>T (p.Thr2767=)	rs760906844	0.00003
NM_001365276.2(TNXB):c.2236G>A (p.Gly746Arg)	rs772687581	0.00002
NM_001365276.2(TNXB):c.4021G>A (p.Glu1341Lys)	rs924349760	0.00002
NM_001365276.2(TNXB):c.4333G>A (p.Glu1445Lys)	rs765829589	0.00002
NM_001365276.2(TNXB):c.4930C>G (p.Leu1644Val)	rs762859726	0.00002
NM_001365276.2(TNXB):c.6722C>T (p.Pro2241Leu)	rs371038535	0.00002
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile)	rs587777683	0.00002
NM_001365276.2(TNXB):c.1290C>T (p.Cys430=)	rs1331733789	0.00001
NM_001365276.2(TNXB):c.1706G>A (p.Cys569Tyr)	rs754450129	0.00001
NM_001365276.2(TNXB):c.5170C>T (p.Arg1724Cys)	rs897784867	0.00001
NM_001365276.2(TNXB):c.6514G>A (p.Val2172Met)	rs766408404	0.00001
NM_001365276.2(TNXB):c.7469C>T (p.Pro2490Leu)	rs766981650	0.00001
NM_001365276.2(TNXB):c.898G>A (p.Gly300Ser)	rs1366605473	0.00001
NM_001365276.2(TNXB):c.9260T>C (p.Phe3087Ser)	rs1045456660	0.00001
NM_001365276.2(TNXB):c.9584C>T (p.Ser3195Phe)	rs768193578	0.00001
GRCh37/hg19 6p21.33(chr6:32011214-32011333)x1
NM_001365276.2(TNXB):c.10520T>C (p.Leu3507Pro)	rs1554310680
NM_001365276.2(TNXB):c.109C>T (p.Pro37Ser)
NM_001365276.2(TNXB):c.1107C>A (p.Ser369Arg)	rs2127291792
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del)	rs2127289918
NM_001365276.2(TNXB):c.1371C>A (p.Ser457Arg)	rs1469943517
NM_001365276.2(TNXB):c.2059G>A (p.Ala687Thr)	rs1460634955
NM_001365276.2(TNXB):c.2279T>G (p.Leu760Trp)
NM_001365276.2(TNXB):c.2358+1717T>C
NM_001365276.2(TNXB):c.2728G>A (p.Ala910Thr)
NM_001365276.2(TNXB):c.3206C>T (p.Thr1069Met)
NM_001365276.2(TNXB):c.3392A>G (p.Tyr1131Cys)
NM_001365276.2(TNXB):c.3595C>T (p.Arg1199Trp)	rs1462486516
NM_001365276.2(TNXB):c.3758C>A (p.Pro1253His)	rs188789382
NM_001365276.2(TNXB):c.4305G>A (p.Lys1435=)	rs1562847331
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)	rs201360247
NM_001365276.2(TNXB):c.5246_5254del (p.Arg1749_Gly1751del)	rs2151916743
NM_001365276.2(TNXB):c.6277G>C (p.Ala2093Pro)
NM_001365276.2(TNXB):c.6448G>A (p.Val2150Met)
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)	rs140304758
NM_001365276.2(TNXB):c.6979G>A (p.Glu2327Lys)
NM_001365276.2(TNXB):c.707G>C (p.Arg236Pro)	rs775695202
NM_001365276.2(TNXB):c.7441G>A (p.Gly2481Ser)
NM_001365276.2(TNXB):c.752G>C (p.Arg251Pro)	rs1019388787
NM_001365276.2(TNXB):c.753_845del (p.Gly261_Glu291del)
NM_001365276.2(TNXB):c.7646T>C (p.Phe2549Ser)
NM_001365276.2(TNXB):c.7876_7877delinsTT (p.Pro2626Phe)	rs2151902012
NM_001365276.2(TNXB):c.8204A>T (p.Glu2735Val)	rs369113595
NM_001365276.2(TNXB):c.8329C>T (p.Pro2777Ser)	rs2151900534
NM_001365276.2(TNXB):c.8435G>A (p.Arg2812His)
NM_001365276.2(TNXB):c.8467+3G>A
NM_001365276.2(TNXB):c.8510C>T (p.Thr2837Ile)
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)	rs61745355
NM_001365276.2(TNXB):c.8718C>G (p.His2906Gln)
NM_001365276.2(TNXB):c.9159G>A (p.Met3053Ile)
NM_001365276.2(TNXB):c.9313C>T (p.Arg3105Trp)	rs1562791705
NM_001365276.2(TNXB):c.9328G>C (p.Glu3110Gln)
NM_001365276.2(TNXB):c.9631C>T (p.Arg3211Cys)
NM_001365276.2(TNXB):c.9632G>A (p.Arg3211His)	rs1304146232
NM_001365276.2(TNXB):c.9757+7G>T

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