ClinVar Miner

List of variants in gene TTC21B reported as uncertain significance for Asphyxiating thoracic dystrophy 4; Nephronophthisis 12

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Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00038
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.2549C>T (p.Ala850Val) rs199795649 0.00017
NM_024753.5(TTC21B):c.3787C>T (p.Arg1263Trp) rs367690496 0.00017
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00015
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
NM_024753.5(TTC21B):c.1195T>C (p.Tyr399His) rs187985767 0.00009
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg) rs137926033 0.00009
NM_024753.5(TTC21B):c.1538A>G (p.Asn513Ser) rs200137653 0.00008
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.3673C>T (p.Arg1225Cys) rs377393152 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.1528G>C (p.Ala510Pro) rs200505317 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619 0.00006
NM_024753.5(TTC21B):c.2230G>C (p.Ala744Pro) rs150783918 0.00005
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala) rs142512424 0.00005
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser) rs761856542 0.00005
NM_024753.5(TTC21B):c.940G>A (p.Glu314Lys) rs750750865 0.00005
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 0.00004
NM_024753.5(TTC21B):c.1847G>A (p.Arg616His) rs780307963 0.00004
NM_024753.5(TTC21B):c.1963C>T (p.Arg655Trp) rs138937289 0.00004
NM_024753.5(TTC21B):c.2060T>G (p.Phe687Cys) rs370846838 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3182A>G (p.Tyr1061Cys) rs200280772 0.00004
NM_024753.5(TTC21B):c.3556A>G (p.Met1186Val) rs376308209 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024753.5(TTC21B):c.1535T>C (p.Phe512Ser) rs371583620 0.00003
NM_024753.5(TTC21B):c.1798G>T (p.Ala600Ser) rs369672356 0.00003
NM_024753.5(TTC21B):c.2165C>G (p.Pro722Arg) rs760571843 0.00003
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.2966T>C (p.Leu989Ser) rs552766355 0.00003
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00003
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00003
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00003
NM_024753.5(TTC21B):c.3640G>A (p.Asp1214Asn) rs554851165 0.00003
NM_024753.5(TTC21B):c.3857T>C (p.Ile1286Thr) rs1039268887 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.52T>G (p.Tyr18Asp) rs954912471 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
NM_024753.5(TTC21B):c.1184C>T (p.Ala395Val) rs755001539 0.00002
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1357A>G (p.Met453Val) rs754773733 0.00002
NM_024753.5(TTC21B):c.151+4C>T rs370743264 0.00002
NM_024753.5(TTC21B):c.1760A>G (p.His587Arg) rs372066887 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln) rs776765352 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00002
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val) rs145022246 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_024753.5(TTC21B):c.1301C>G (p.Pro434Arg) rs971283288 0.00001
NM_024753.5(TTC21B):c.1431C>G (p.Cys477Trp) rs751822992 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1543C>T (p.Leu515Phe) rs1246746208 0.00001
NM_024753.5(TTC21B):c.1609T>G (p.Leu537Val) rs200916824 0.00001
NM_024753.5(TTC21B):c.1685A>G (p.Tyr562Cys) rs1686220039 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.1876G>A (p.Val626Ile) rs144411419 0.00001
NM_024753.5(TTC21B):c.2324C>T (p.Ala775Val) rs753608608 0.00001
NM_024753.5(TTC21B):c.2441A>G (p.His814Arg) rs965238984 0.00001
NM_024753.5(TTC21B):c.2449G>T (p.Ala817Ser) rs376354424 0.00001
NM_024753.5(TTC21B):c.2483T>C (p.Met828Thr) rs767841175 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.2572C>G (p.Arg858Gly) rs895624584 0.00001
NM_024753.5(TTC21B):c.2588G>A (p.Arg863Gln) rs776430414 0.00001
NM_024753.5(TTC21B):c.2590G>A (p.Val864Ile) rs768255232 0.00001
NM_024753.5(TTC21B):c.2698T>A (p.Tyr900Asn) rs1336338964 0.00001
NM_024753.5(TTC21B):c.2810G>T (p.Cys937Phe) rs184561530 0.00001
NM_024753.5(TTC21B):c.2866A>G (p.Met956Val) rs746138925 0.00001
NM_024753.5(TTC21B):c.2941C>T (p.Arg981Cys) rs749278599 0.00001
NM_024753.5(TTC21B):c.3032T>C (p.Met1011Thr) rs777427926 0.00001
NM_024753.5(TTC21B):c.3190A>T (p.Ile1064Leu) rs1004469692 0.00001
NM_024753.5(TTC21B):c.3350A>C (p.Gln1117Pro) rs148631747 0.00001
NM_024753.5(TTC21B):c.3358G>A (p.Val1120Ile) rs746123823 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3487A>G (p.Met1163Val) rs749970838 0.00001
NM_024753.5(TTC21B):c.3545G>A (p.Arg1182His) rs199658616 0.00001
NM_024753.5(TTC21B):c.3551C>T (p.Ala1184Val) rs754751728 0.00001
NM_024753.5(TTC21B):c.3562T>C (p.Trp1188Arg) rs1444587317 0.00001
NM_024753.5(TTC21B):c.3665G>A (p.Arg1222Gln) rs3749031 0.00001
NM_024753.5(TTC21B):c.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00001
NM_024753.5(TTC21B):c.3791C>T (p.Thr1264Ile) rs569067100 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) rs779381150 0.00001
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) rs775266613 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.65T>C (p.Val22Ala) rs147692756 0.00001
NM_024753.5(TTC21B):c.8C>T (p.Ser3Leu) rs1364155246 0.00001
NM_024753.5(TTC21B):c.914T>C (p.Ile305Thr) rs1217195888 0.00001
NM_024753.5(TTC21B):c.932C>T (p.Thr311Met) rs1440923224 0.00001
NM_024753.5(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.1002G>T (p.Met334Ile)
NM_024753.5(TTC21B):c.1017A>C (p.Arg339Ser)
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1088-7A>C
NM_024753.5(TTC21B):c.1088G>A (p.Gly363Glu)
NM_024753.5(TTC21B):c.1185+5A>G rs2105343665
NM_024753.5(TTC21B):c.1185G>T (p.Ala395=)
NM_024753.5(TTC21B):c.1201C>T (p.His401Tyr)
NM_024753.5(TTC21B):c.1216A>G (p.Met406Val)
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1274C>G (p.Thr425Ser) rs2468209288
NM_024753.5(TTC21B):c.1379C>T (p.Pro460Leu)
NM_024753.5(TTC21B):c.1469G>A (p.Gly490Asp)
NM_024753.5(TTC21B):c.151+20C>T
NM_024753.5(TTC21B):c.1517-5A>T rs769174542
NM_024753.5(TTC21B):c.1523T>C (p.Ile508Thr) rs769248659
NM_024753.5(TTC21B):c.1565A>T (p.Asn522Ile)
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1709C>T (p.Ala570Val) rs1559058045
NM_024753.5(TTC21B):c.1736T>C (p.Ile579Thr)
NM_024753.5(TTC21B):c.1899+18T>G
NM_024753.5(TTC21B):c.1899G>A (p.Gln633=)
NM_024753.5(TTC21B):c.1954G>A (p.Glu652Lys)
NM_024753.5(TTC21B):c.2008A>G (p.Ile670Val)
NM_024753.5(TTC21B):c.202G>T (p.Asp68Tyr) rs1242719645
NM_024753.5(TTC21B):c.21+6_21+7insGGTGAGCAGGTGAGCG
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC rs141509830
NM_024753.5(TTC21B):c.2101C>G (p.His701Asp) rs1403298131
NM_024753.5(TTC21B):c.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2135T>C (p.Phe712Ser) rs1417670473
NM_024753.5(TTC21B):c.2211+4A>G
NM_024753.5(TTC21B):c.2326A>G (p.Ile776Val) rs1185370524
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2434C>A (p.Leu812Ile)
NM_024753.5(TTC21B):c.248T>A (p.Met83Lys)
NM_024753.5(TTC21B):c.2509C>G (p.Leu837Val)
NM_024753.5(TTC21B):c.2533G>C (p.Glu845Gln)
NM_024753.5(TTC21B):c.2568+14T>A
NM_024753.5(TTC21B):c.2599C>A (p.Arg867Ser) rs746700857
NM_024753.5(TTC21B):c.2683G>A (p.Val895Ile)
NM_024753.5(TTC21B):c.2687C>T (p.Ala896Val) rs768486051
NM_024753.5(TTC21B):c.272C>G (p.Ala91Gly)
NM_024753.5(TTC21B):c.2774C>T (p.Ala925Val)
NM_024753.5(TTC21B):c.2777_2791del (p.Arg926_Ala930del) rs757389950
NM_024753.5(TTC21B):c.2814_2815delinsAA (p.Leu938_Arg939=) rs2105303218
NM_024753.5(TTC21B):c.2884A>T (p.Met962Leu) rs1010771919
NM_024753.5(TTC21B):c.2975T>C (p.Leu992Ser) rs995750441
NM_024753.5(TTC21B):c.3040A>G (p.Lys1014Glu)
NM_024753.5(TTC21B):c.3101+17A>G
NM_024753.5(TTC21B):c.310A>G (p.Lys104Glu)
NM_024753.5(TTC21B):c.311A>G (p.Lys104Arg)
NM_024753.5(TTC21B):c.3144A>T (p.Lys1048Asn)
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3149G>C (p.Arg1050Pro)
NM_024753.5(TTC21B):c.3165G>C (p.Trp1055Cys)
NM_024753.5(TTC21B):c.3167G>A (p.Gly1056Asp) rs746423189
NM_024753.5(TTC21B):c.3185A>G (p.Asn1062Ser)
NM_024753.5(TTC21B):c.3192A>G (p.Ile1064Met)
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
NM_024753.5(TTC21B):c.3344C>T (p.Thr1115Ile)
NM_024753.5(TTC21B):c.3362A>G (p.Gln1121Arg)
NM_024753.5(TTC21B):c.3364C>T (p.Leu1122Phe)
NM_024753.5(TTC21B):c.3451G>A (p.Ala1151Thr) rs1356440860
NM_024753.5(TTC21B):c.3467A>G (p.His1156Arg) rs1471953257
NM_024753.5(TTC21B):c.3476C>A (p.Ala1159Glu)
NM_024753.5(TTC21B):c.3490G>A (p.Ala1164Thr) rs374018043
NM_024753.5(TTC21B):c.3683G>C (p.Arg1228Thr)
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.3769G>A (p.Ala1257Thr)
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3799G>A (p.Ala1267Thr)
NM_024753.5(TTC21B):c.3808T>A (p.Tyr1270Asn)
NM_024753.5(TTC21B):c.3890C>A (p.Pro1297Gln)
NM_024753.5(TTC21B):c.3909A>G (p.Arg1303=) rs1305905662
NM_024753.5(TTC21B):c.3917T>C (p.Ile1306Thr)
NM_024753.5(TTC21B):c.430G>A (p.Gly144Arg)
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) rs373074238
NM_024753.5(TTC21B):c.436G>C (p.Val146Leu)
NM_024753.5(TTC21B):c.512G>C (p.Gly171Ala)
NM_024753.5(TTC21B):c.553-3T>C
NM_024753.5(TTC21B):c.634C>T (p.Leu212Phe)
NM_024753.5(TTC21B):c.677A>C (p.Gln226Pro)
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335
NM_024753.5(TTC21B):c.910C>G (p.Leu304Val)
NM_024753.5(TTC21B):c.924A>C (p.Lys308Asn)
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698

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