ClinVar Miner

List of variants in gene TTC21B studied for Asphyxiating thoracic dystrophy 4; Nephronophthisis 12

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Gene type:
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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2829A>G (p.Leu943=) rs146009256 0.00041
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) rs139457042 0.00020
NM_024753.5(TTC21B):c.2339A>T (p.Glu780Val) rs371940683 0.00017
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.272C>A (p.Ala91Asp) rs371376632 0.00014
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) rs147696806 0.00013
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.2937A>G (p.Leu979=) rs138361451 0.00011
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) rs200916501 0.00010
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.3673C>T (p.Arg1225Cys) rs377393152 0.00009
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) rs148935124 0.00009
NM_024753.5(TTC21B):c.553-20C>G rs376144362 0.00009
NM_024753.5(TTC21B):c.234A>G (p.Ile78Met) rs139885689 0.00008
NM_024753.5(TTC21B):c.3552G>A (p.Ala1184=) rs148113339 0.00008
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.2568+17G>T rs370340216 0.00007
NM_024753.5(TTC21B):c.3819A>G (p.Ala1273=) rs373891320 0.00007
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.1538A>G (p.Asn513Ser) rs200137653 0.00006
NM_024753.5(TTC21B):c.1743C>T (p.Asp581=) rs200990862 0.00006
NM_024753.5(TTC21B):c.1875C>T (p.Asp625=) rs201527373 0.00006
NM_024753.5(TTC21B):c.2176C>A (p.Leu726Ile) rs762535321 0.00006
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) rs769057187 0.00006
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2398T>C (p.Leu800=) rs781367281 0.00005
NM_024753.5(TTC21B):c.2611G>A (p.Glu871Lys) rs757730050 0.00005
NM_024753.5(TTC21B):c.2951-4C>T rs369065819 0.00005
NM_024753.5(TTC21B):c.1573T>C (p.Tyr525His) rs377009251 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.2272T>C (p.Leu758=) rs111228450 0.00004
NM_024753.5(TTC21B):c.2580A>G (p.Leu860=) rs201563244 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) rs373353875 0.00004
NM_024753.5(TTC21B):c.3788G>A (p.Arg1263Gln) rs201495700 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
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.2758-2A>G rs766132877 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.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3931C>T (p.Arg1311Cys) rs200605660 0.00003
NM_024753.5(TTC21B):c.62A>G (p.His21Arg) rs757283243 0.00003
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.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.176A>C (p.Glu59Ala) rs769276420 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2682T>G (p.Ser894=) rs776376597 0.00002
NM_024753.5(TTC21B):c.2868+9A>G rs1465172057 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) rs760729865 0.00002
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) rs747777604 0.00002
NM_024753.5(TTC21B):c.3476C>T (p.Ala1159Val) rs367564721 0.00002
NM_024753.5(TTC21B):c.3572T>C (p.Ile1191Thr) rs776721597 0.00002
NM_024753.5(TTC21B):c.3617T>C (p.Ile1206Thr) rs374240595 0.00002
NM_024753.5(TTC21B):c.3623T>G (p.Ile1208Ser) rs189519760 0.00002
NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys) rs1372232699 0.00002
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1386+15G>A rs201281283 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.1546C>T (p.Gln516Ter) rs779134983 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.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.3102-2A>G rs779472675 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.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3524G>A (p.Arg1175Gln) rs987977269 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.3668G>T (p.Cys1223Phe) rs1225739712 0.00001
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) rs370484375 0.00001
NM_024753.5(TTC21B):c.3915T>A (p.Asp1305Glu) rs756943619 0.00001
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) rs781486283 0.00001
NM_024753.5(TTC21B):c.894+13A>G rs780758585 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_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.1038G>A (p.Trp346Ter) rs2105344578
NM_024753.5(TTC21B):c.1185+5A>G rs2105343665
NM_024753.5(TTC21B):c.1231C>G (p.Arg411Gly) rs185089786
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
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.2128A>G (p.Thr710Ala) rs1457311503
NM_024753.5(TTC21B):c.2412G>T (p.Trp804Cys) rs1685925745
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.264_267dupTAGA rs748514860
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.3087del (p.Gly1030fs) rs2105291970
NM_024753.5(TTC21B):c.3149G>A (p.Arg1050Gln) rs144103331
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.3782G>T (p.Ser1261Ile) rs371730439
NM_024753.5(TTC21B):c.3874-13_3874-10del rs763460455
NM_024753.5(TTC21B):c.553-13del rs749999474
NM_024753.5(TTC21B):c.864C>A (p.Phe288Leu) rs776784928
NM_024753.5(TTC21B):c.986A>T (p.Glu329Val) rs746459698

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