ClinVar Miner

List of variants in gene CHST14 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00009
NM_130468.4(CHST14):c.1036G>C (p.Ala346Pro) rs762133798 0.00006
NM_130468.4(CHST14):c.1118C>T (p.Ala373Val) rs756985970 0.00006
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 0.00004
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00003
NM_130468.4(CHST14):c.398A>C (p.Gln133Pro) rs866817984 0.00003
NM_130468.4(CHST14):c.743G>C (p.Gly248Ala) rs778069410 0.00003
NM_130468.4(CHST14):c.985C>T (p.Arg329Trp) rs768938583 0.00003
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_130468.4(CHST14):c.799C>G (p.Leu267Val) rs1187724142 0.00002
NM_130468.4(CHST14):c.1000G>A (p.Glu334Lys) rs1207935361 0.00001
NM_130468.4(CHST14):c.1007T>C (p.Leu336Pro) rs758949864 0.00001
NM_130468.4(CHST14):c.1010A>G (p.His337Arg) rs772159874 0.00001
NM_130468.4(CHST14):c.1021T>C (p.Cys341Arg) rs1361394249 0.00001
NM_130468.4(CHST14):c.1046A>C (p.Gln349Pro) rs1463514561 0.00001
NM_130468.4(CHST14):c.1109C>G (p.Thr370Ser) rs1458869114 0.00001
NM_130468.4(CHST14):c.298G>A (p.Ala100Thr) rs774196289 0.00001
NM_130468.4(CHST14):c.301G>A (p.Asp101Asn) rs772328190 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.371G>A (p.Arg124Gln) rs1566969138 0.00001
NM_130468.4(CHST14):c.427G>A (p.Val143Ile) rs550038340 0.00001
NM_130468.4(CHST14):c.434A>G (p.Asp145Gly) rs1185910731 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.467A>G (p.Lys156Arg) rs1017593366 0.00001
NM_130468.4(CHST14):c.472G>T (p.Ala158Ser) rs1326303873 0.00001
NM_130468.4(CHST14):c.491G>A (p.Arg164Gln) rs773819291 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.592G>A (p.Glu198Lys) rs781430388 0.00001
NM_130468.4(CHST14):c.611A>G (p.Gln204Arg) rs1201438720 0.00001
NM_130468.4(CHST14):c.655C>T (p.Leu219Phe) rs1377548743 0.00001
NM_130468.4(CHST14):c.685G>A (p.Glu229Lys) rs370299419 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_130468.4(CHST14):c.970C>T (p.Arg324Cys) rs757297535 0.00001
NM_130468.4(CHST14):c.1016A>G (p.His339Arg) rs1160619223
NM_130468.4(CHST14):c.1019T>C (p.Leu340Ser) rs2543006699
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1034G>A (p.Arg345Gln)
NM_130468.4(CHST14):c.1046A>T (p.Gln349Leu) rs1463514561
NM_130468.4(CHST14):c.1070T>A (p.Leu357Gln) rs780540417
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.183G>C (p.Glu61Asp) rs1595869218
NM_130468.4(CHST14):c.212T>C (p.Leu71Pro) rs2543005573
NM_130468.4(CHST14):c.245C>T (p.Ala82Val)
NM_130468.4(CHST14):c.258A>T (p.Lys86Asn) rs2543005627
NM_130468.4(CHST14):c.274G>A (p.Gly92Ser)
NM_130468.4(CHST14):c.284T>C (p.Leu95Pro)
NM_130468.4(CHST14):c.289G>C (p.Ala97Pro) rs1310947796
NM_130468.4(CHST14):c.352G>A (p.Gly118Arg) rs999093521
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.446T>C (p.Phe149Ser) rs1894349458
NM_130468.4(CHST14):c.448C>T (p.Leu150Phe) rs2141570771
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.523A>G (p.Ser175Gly)
NM_130468.4(CHST14):c.529G>T (p.Asp177Tyr) rs2141570842
NM_130468.4(CHST14):c.591G>C (p.Glu197Asp)
NM_130468.4(CHST14):c.594G>C (p.Glu198Asp) rs1218793843
NM_130468.4(CHST14):c.612G>T (p.Gln204His) rs1894353008
NM_130468.4(CHST14):c.640G>A (p.Glu214Lys) rs1421177025
NM_130468.4(CHST14):c.651A>C (p.Glu217Asp)
NM_130468.4(CHST14):c.652C>T (p.Arg218Cys) rs761326208
NM_130468.4(CHST14):c.665C>T (p.Ala222Val) rs868085915
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.691C>G (p.Arg231Gly) rs2543006279
NM_130468.4(CHST14):c.710A>G (p.Tyr237Cys) rs1344606912
NM_130468.4(CHST14):c.718G>C (p.Glu240Gln) rs199949519
NM_130468.4(CHST14):c.764G>C (p.Gly255Ala) rs2543006384
NM_130468.4(CHST14):c.764G>T (p.Gly255Val)
NM_130468.4(CHST14):c.778T>C (p.Phe260Leu) rs2141571094
NM_130468.4(CHST14):c.778T>G (p.Phe260Val)
NM_130468.4(CHST14):c.803T>C (p.Val268Ala)
NM_130468.4(CHST14):c.863C>T (p.Pro288Leu) rs1894358518
NM_130468.4(CHST14):c.875A>C (p.His292Pro)
NM_130468.4(CHST14):c.902G>A (p.Arg301Lys)
NM_130468.4(CHST14):c.940C>T (p.Arg314Trp)
NM_130468.4(CHST14):c.949C>T (p.Pro317Ser)
NM_130468.4(CHST14):c.971G>A (p.Arg324His) rs376435449
NM_130468.4(CHST14):c.986G>T (p.Arg329Leu)
NM_130468.4(CHST14):c.992C>G (p.Ala331Gly) rs2543006678

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