ClinVar Miner

List of variants in gene TNXB studied for Inborn genetic diseases

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Total variants: 110
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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.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) rs369143302 0.00043
NM_001365276.2(TNXB):c.9202G>A (p.Val3068Met) rs777978006 0.00007
NM_001365276.2(TNXB):c.8431C>T (p.Arg2811Trp) rs377299411 0.00005
NM_001365276.2(TNXB):c.3968G>A (p.Arg1323Gln) rs766503904 0.00004
NM_001365276.2(TNXB):c.602G>A (p.Arg201His) rs367964663 0.00004
NM_001365276.2(TNXB):c.7310G>A (p.Arg2437His) rs757178741 0.00004
NM_001365276.2(TNXB):c.10573C>T (p.Arg3525Cys) rs768081210 0.00003
NM_001365276.2(TNXB):c.2741G>A (p.Arg914Gln) rs750782563 0.00003
NM_001365276.2(TNXB):c.7396G>A (p.Val2466Met) rs369070722 0.00003
NM_001365276.2(TNXB):c.9418G>A (p.Val3140Met) rs774592301 0.00003
NM_001365276.2(TNXB):c.4762A>G (p.Ile1588Val) rs569747700 0.00001
NM_001365276.2(TNXB):c.5998C>T (p.Pro2000Ser) rs776303206 0.00001
NM_001365276.2(TNXB):c.697T>G (p.Cys233Gly) rs774675861 0.00001
NM_001365276.2(TNXB):c.9089G>A (p.Gly3030Asp) rs1443590183 0.00001
NM_001365276.2(TNXB):c.9812C>T (p.Ala3271Val) rs2856444 0.00001
NM_001365276.2(TNXB):c.1008C>G (p.Asp336Glu)
NM_001365276.2(TNXB):c.10372G>C (p.Ala3458Pro)
NM_001365276.2(TNXB):c.1067G>A (p.Arg356His)
NM_001365276.2(TNXB):c.1071C>G (p.Cys357Trp)
NM_001365276.2(TNXB):c.1216G>A (p.Gly406Ser)
NM_001365276.2(TNXB):c.1295C>G (p.Ser432Trp)
NM_001365276.2(TNXB):c.1375G>A (p.Glu459Lys)
NM_001365276.2(TNXB):c.1547C>G (p.Pro516Arg)
NM_001365276.2(TNXB):c.1694G>T (p.Gly565Val)
NM_001365276.2(TNXB):c.1718G>T (p.Arg573Leu)
NM_001365276.2(TNXB):c.1878del (p.His626fs) rs1554334255
NM_001365276.2(TNXB):c.1964A>G (p.Asp655Gly)
NM_001365276.2(TNXB):c.1985G>A (p.Cys662Tyr)
NM_001365276.2(TNXB):c.2110G>A (p.Val704Met)
NM_001365276.2(TNXB):c.2197A>G (p.Ser733Gly)
NM_001365276.2(TNXB):c.2558C>A (p.Pro853Gln)
NM_001365276.2(TNXB):c.2818C>T (p.Pro940Ser)
NM_001365276.2(TNXB):c.2943G>T (p.Trp981Cys)
NM_001365276.2(TNXB):c.2989G>A (p.Val997Met)
NM_001365276.2(TNXB):c.2995G>A (p.Glu999Lys)
NM_001365276.2(TNXB):c.3034G>T (p.Val1012Phe)
NM_001365276.2(TNXB):c.3082C>G (p.Leu1028Val)
NM_001365276.2(TNXB):c.3248C>T (p.Thr1083Met)
NM_001365276.2(TNXB):c.3587G>A (p.Arg1196Lys)
NM_001365276.2(TNXB):c.3659A>G (p.Asp1220Gly)
NM_001365276.2(TNXB):c.3763C>A (p.Arg1255Ser)
NM_001365276.2(TNXB):c.3811G>A (p.Gly1271Ser)
NM_001365276.2(TNXB):c.3827C>T (p.Ser1276Phe)
NM_001365276.2(TNXB):c.3862T>G (p.Phe1288Val)
NM_001365276.2(TNXB):c.3984C>A (p.Asn1328Lys)
NM_001365276.2(TNXB):c.4025C>G (p.Ser1342Cys)
NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)
NM_001365276.2(TNXB):c.4534G>A (p.Asp1512Asn)
NM_001365276.2(TNXB):c.4573C>T (p.Arg1525Ter)
NM_001365276.2(TNXB):c.458G>T (p.Arg153Leu)
NM_001365276.2(TNXB):c.4639G>C (p.Asp1547His)
NM_001365276.2(TNXB):c.4655G>A (p.Gly1552Asp)
NM_001365276.2(TNXB):c.4670T>C (p.Val1557Ala)
NM_001365276.2(TNXB):c.4933C>T (p.Leu1645Phe)
NM_001365276.2(TNXB):c.499T>A (p.Cys167Ser)
NM_001365276.2(TNXB):c.5104G>A (p.Asp1702Asn)
NM_001365276.2(TNXB):c.5105A>C (p.Asp1702Ala)
NM_001365276.2(TNXB):c.5152C>G (p.Pro1718Ala)
NM_001365276.2(TNXB):c.5266G>A (p.Asp1756Asn)
NM_001365276.2(TNXB):c.5321C>G (p.Pro1774Arg)
NM_001365276.2(TNXB):c.5363C>G (p.Thr1788Ser)
NM_001365276.2(TNXB):c.5519A>G (p.Tyr1840Cys)
NM_001365276.2(TNXB):c.5537G>C (p.Gly1846Ala)
NM_001365276.2(TNXB):c.5789A>G (p.Asp1930Gly)
NM_001365276.2(TNXB):c.5914G>A (p.Glu1972Lys)
NM_001365276.2(TNXB):c.593T>G (p.Val198Gly)
NM_001365276.2(TNXB):c.5974G>A (p.Glu1992Lys)
NM_001365276.2(TNXB):c.6143A>G (p.Asp2048Gly)
NM_001365276.2(TNXB):c.6242G>A (p.Ser2081Asn)
NM_001365276.2(TNXB):c.6292C>G (p.Leu2098Val)
NM_001365276.2(TNXB):c.6422T>C (p.Val2141Ala)
NM_001365276.2(TNXB):c.6454G>A (p.Gly2152Ser)
NM_001365276.2(TNXB):c.6509G>A (p.Arg2170Gln)
NM_001365276.2(TNXB):c.6628C>G (p.Leu2210Val)
NM_001365276.2(TNXB):c.668A>G (p.Gln223Arg)
NM_001365276.2(TNXB):c.6745A>T (p.Ile2249Phe)
NM_001365276.2(TNXB):c.6783C>A (p.Asn2261Lys)
NM_001365276.2(TNXB):c.6961C>A (p.Leu2321Met)
NM_001365276.2(TNXB):c.7001T>C (p.Leu2334Pro)
NM_001365276.2(TNXB):c.706C>T (p.Arg236Trp) rs763079484
NM_001365276.2(TNXB):c.7159G>A (p.Gly2387Arg)
NM_001365276.2(TNXB):c.7462G>A (p.Val2488Met)
NM_001365276.2(TNXB):c.7513G>C (p.Glu2505Gln)
NM_001365276.2(TNXB):c.7538G>A (p.Gly2513Asp)
NM_001365276.2(TNXB):c.7592C>T (p.Thr2531Ile)
NM_001365276.2(TNXB):c.7658C>G (p.Thr2553Ser)
NM_001365276.2(TNXB):c.7681G>A (p.Gly2561Arg)
NM_001365276.2(TNXB):c.7804G>A (p.Val2602Met)
NM_001365276.2(TNXB):c.781G>T (p.Gly261Cys)
NM_001365276.2(TNXB):c.7829A>G (p.Asp2610Gly)
NM_001365276.2(TNXB):c.793G>C (p.Val265Leu)
NM_001365276.2(TNXB):c.8397A>T (p.Lys2799Asn)
NM_001365276.2(TNXB):c.8488A>G (p.Thr2830Ala)
NM_001365276.2(TNXB):c.8613del (p.Phe2871fs) rs1777434181
NM_001365276.2(TNXB):c.8687G>T (p.Gly2896Val)
NM_001365276.2(TNXB):c.8783G>A (p.Gly2928Glu)
NM_001365276.2(TNXB):c.8840C>G (p.Pro2947Arg)
NM_001365276.2(TNXB):c.8842G>C (p.Glu2948Gln)
NM_001365276.2(TNXB):c.8851G>A (p.Glu2951Lys)
NM_001365276.2(TNXB):c.8971G>A (p.Gly2991Arg)
NM_001365276.2(TNXB):c.8989C>T (p.Arg2997Cys) rs769065624
NM_001365276.2(TNXB):c.9007A>G (p.Ser3003Gly)
NM_001365276.2(TNXB):c.9043A>G (p.Lys3015Glu)
NM_001365276.2(TNXB):c.9163C>G (p.Pro3055Ala)
NM_001365276.2(TNXB):c.9172C>A (p.Pro3058Thr)
NM_001365276.2(TNXB):c.9333C>A (p.Asp3111Glu)
NM_001365276.2(TNXB):c.9709C>T (p.Leu3237Phe)
NM_001365276.2(TNXB):c.9814G>A (p.Ala3272Thr)

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