ClinVar Miner

List of variants studied for infantile liver failure

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_015909.4(NBAS):c.514-11C>T rs10208972 0.64424
NM_015909.4(NBAS):c.287+20_287+21insT rs34789730 0.64408
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) rs7590340 0.62925
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) rs13014906 0.62509
NM_015909.4(NBAS):c.1148-9G>C rs1990755 0.61252
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) rs1990754 0.61213
NM_015909.4(NBAS):c.1148-26G>A rs1990756 0.61206
NM_015909.4(NBAS):c.1147+11C>T rs1125534 0.60275
NM_015909.4(NBAS):c.5138+24G>A rs4668892 0.53637
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) rs13029846 0.52998
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) rs4668909 0.50682
NM_018006.5(TRMU):c.*276G>A rs13585 0.24909
NM_015909.4(NBAS):c.4462-31A>G rs2042145 0.23973
NM_021930.6(RINT1):c.118A>T (p.Ser40Cys) rs11556986 0.19903
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_021930.6(RINT1):c.2067+13A>C rs864687 0.10655
NM_021930.6(RINT1):c.2068-22T>C rs861761 0.10556
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.*151C>T rs116347546 0.03272
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.4(TRMU):c.-178G>A rs114587018 0.02983
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.4(TRMU):c.-117G>C rs116519615 0.02778
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_018006.4(TRMU):c.-128A>G rs141601555 0.01616
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.*124G>C rs116303153 0.01300
NM_018006.4(TRMU):c.-279G>A rs187162795 0.01295
NM_018006.5(TRMU):c.*210G>C rs141551983 0.01148
NM_020117.11(LARS1):c.2212+13T>C rs114726414 0.00678
NM_018006.4(TRMU):c.-281G>A rs148373924 0.00662
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NM_018006.4(TRMU):c.-87T>C rs184994382 0.00164
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_018006.5(TRMU):c.-147C>A rs190351151 0.00097
NM_018006.5(TRMU):c.*51C>T rs111830256 0.00087
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr) rs138345617 0.00060
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_015909.4(NBAS):c.5596G>A (p.Val1866Ile) rs574477358 0.00043
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys) rs140855946 0.00033
NM_018006.5(TRMU):c.*149G>A rs542744986 0.00022
NM_018006.5(TRMU):c.-44G>A rs370964036 0.00021
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_018006.5(TRMU):c.*113G>A rs747510857 0.00019
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val) rs111608902 0.00016
NM_018006.4(TRMU):c.-312G>A rs143463292 0.00015
NM_015909.4(NBAS):c.5251A>G (p.Ile1751Val) rs760807984 0.00014
NM_015909.4(NBAS):c.6022A>G (p.Ile2008Val) rs370669818 0.00014
NM_018006.4(TRMU):c.-161A>C rs886057607 0.00014
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.910C>G (p.Leu304Val) rs200777988 0.00011
NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) rs141793158 0.00010
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser) rs150128284 0.00010
NM_018006.5(TRMU):c.968G>A (p.Arg323Gln) rs373437260 0.00010
NM_015909.4(NBAS):c.4031A>T (p.His1344Leu) rs201325677 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_018006.5(TRMU):c.-19G>C rs886057609 0.00008
NM_018006.5(TRMU):c.83-9C>T rs374612111 0.00008
NM_018006.5(TRMU):c.1018+9C>T rs373346869 0.00006
NM_018006.5(TRMU):c.248+9G>A rs369189631 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_021930.6(RINT1):c.840-12T>A rs747803201 0.00006
NM_018006.5(TRMU):c.873+11C>T rs373365569 0.00005
NM_018006.5(TRMU):c.880C>T (p.Arg294Trp) rs773745635 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_015909.4(NBAS):c.2423+404G>C rs1019313682 0.00004
NM_015909.4(NBAS):c.2827G>T (p.Glu943Ter) rs143012720 0.00004
NM_018006.4(TRMU):c.-190A>T rs538113553 0.00004
NM_018006.5(TRMU):c.*28G>A rs776214918 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00004
NM_018006.5(TRMU):c.705+4C>T rs372122484 0.00004
NM_018006.5(TRMU):c.773-4G>A rs368787983 0.00004
NM_018006.5(TRMU):c.834C>T (p.Tyr278=) rs772935887 0.00004
NM_018006.5(TRMU):c.873+12G>A rs540183174 0.00004
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys) rs764958201 0.00004
NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp) rs897487519 0.00003
NM_015909.4(NBAS):c.6970C>T (p.Arg2324Cys) rs553951049 0.00003
NM_015909.4(NBAS):c.7003C>T (p.Arg2335Trp) rs372119905 0.00003
NM_018006.4(TRMU):c.-151G>A rs886057608 0.00003
NM_018006.5(TRMU):c.-15T>C rs764076380 0.00003
NM_018006.5(TRMU):c.461G>A (p.Arg154Gln) rs200963587 0.00003
NM_018006.5(TRMU):c.469G>A (p.Val157Ile) rs201755743 0.00003
NM_020117.11(LARS1):c.109T>G (p.Leu37Val) rs576752929 0.00003
NM_015909.4(NBAS):c.1749G>A (p.Trp583Ter) rs770446752 0.00002
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185 0.00002
NM_015909.4(NBAS):c.4280C>T (p.Ala1427Val) rs767605543 0.00002
NM_015909.4(NBAS):c.6433-2A>G rs200365734 0.00002
NM_018006.5(TRMU):c.*320A>G rs1476756148 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu) rs199943967 0.00002
NM_018006.5(TRMU):c.1242T>G (p.Gly414=) rs780243289 0.00002
NM_018006.5(TRMU):c.249-2A>G rs768299416 0.00002
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018006.5(TRMU):c.96_97del (p.Phe35fs) rs762738569 0.00002
NM_020117.11(LARS1):c.1118A>G (p.Tyr373Cys) rs201861847 0.00002
NM_021930.6(RINT1):c.2361G>A (p.Trp787Ter) rs747595808 0.00002
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter) rs376113678 0.00001
NM_015909.4(NBAS):c.1501C>T (p.Arg501Ter) rs759960319 0.00001
NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) rs767280377 0.00001
NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter) rs761330483 0.00001
NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) rs1677547983 0.00001
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_015909.4(NBAS):c.2708T>G (p.Leu903Arg) rs368196005 0.00001
NM_015909.4(NBAS):c.2951T>G (p.Ile984Ser) rs140841721 0.00001
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala) rs538592084 0.00001
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) rs769425183 0.00001
NM_015909.4(NBAS):c.513+2T>C rs1663675984 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter) rs778338208 0.00001
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) rs370928571 0.00001
NM_018006.5(TRMU):c.1125C>T (p.Asp375=) rs779022860 0.00001
NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg) rs766403441 0.00001
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter) rs1174791046 0.00001
NM_018006.5(TRMU):c.497C>A (p.Ala166Glu) rs756794418 0.00001
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg) rs1253028633 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018006.5(TRMU):c.803del (p.Ala268fs) rs745338284 0.00001
NM_018006.5(TRMU):c.814G>A (p.Gly272Ser) rs1230867178 0.00001
NM_018006.5(TRMU):c.83-5C>T rs758628820 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.941C>G (p.Ala314Gly) rs760149424 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_020117.11(LARS1):c.1284G>A (p.Pro428=) rs778961690 0.00001
NM_020117.11(LARS1):c.3286A>G (p.Ile1096Val) rs373129039 0.00001
NM_021930.6(RINT1):c.1102G>A (p.Ala368Thr) rs545894353 0.00001
NM_021930.6(RINT1):c.1120C>T (p.Arg374Trp) rs1269514574 0.00001
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile) rs1790880304 0.00001
GRCh38/hg38 12p12.3(chr12:15466904-15470698)
NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs) rs775395168
NM_015909.4(NBAS):c.1858A>T (p.Lys620Ter) rs2148574197
NM_015909.4(NBAS):c.1A>T (p.Met1Leu) rs368516200
NM_015909.4(NBAS):c.2092T>C (p.Tyr698His)
NM_015909.4(NBAS):c.2203-2A>G
NM_015909.4(NBAS):c.2630G>T (p.Gly877Val) rs2148464034
NM_015909.4(NBAS):c.270G>C (p.Trp90Cys) rs1664524026
NM_015909.4(NBAS):c.2764-1G>C
NM_015909.4(NBAS):c.2802G>A (p.Trp934Ter) rs1572813576
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.3160G>T (p.Gly1054Ter)
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121
NM_015909.4(NBAS):c.335+1G>A rs1573008071
NM_015909.4(NBAS):c.3505_3506del (p.Lys1169fs)
NM_015909.4(NBAS):c.3940A>T (p.Lys1314Ter) rs1673479296
NM_015909.4(NBAS):c.406A>G (p.Arg136Gly) rs1253033456
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
NM_015909.4(NBAS):c.4255del (p.Ser1419fs)
NM_015909.4(NBAS):c.4288C>T (p.Gln1430Ter) rs2148233321
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015909.4(NBAS):c.4311G>A (p.Trp1437Ter)
NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter) rs2148225587
NM_015909.4(NBAS):c.4461+2T>C
NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) rs1553367826
NM_015909.4(NBAS):c.4737C>A (p.Ser1579Arg) rs2148158698
NM_015909.4(NBAS):c.4797+29T>A rs1318102
NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
NM_015909.4(NBAS):c.500_501del (p.Phe167fs)
NM_015909.4(NBAS):c.5262del (p.Phe1754fs) rs1669613513
NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)
NM_015909.4(NBAS):c.5465_5467delinsCTT (p.Asn1822_Ile1823delinsThrPhe) rs2148055634
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)
NM_015909.4(NBAS):c.558_560del (p.Ile187del) rs796065037
NM_015909.4(NBAS):c.5953C>T (p.Gln1985Ter)
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.6237-10T>C rs1666790331
NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)
NM_015909.4(NBAS):c.6840G>A (p.Thr2280=) rs776597537
NM_015909.4(NBAS):c.686dup (p.Ser230fs) rs759315662
NM_015909.4(NBAS):c.6877del (p.Leu2293fs) rs761634052
NM_015909.4(NBAS):c.893del (p.Lys298fs) rs2148636494
NM_015909.4(NBAS):c.954+4848C>T rs2148627761
NM_015909.4(NBAS):c.956A>G (p.Asp319Gly)
NM_015909.4:c.5725-13_5725-12insATTA rs1553349519
NM_018006.4(TRMU):c.-113G>C rs182529223
NM_018006.5(TRMU):c.*105A>G rs2078637723
NM_018006.5(TRMU):c.*266AG[1] rs149055127
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.-35G>A rs775079522
NM_018006.5(TRMU):c.-454_-452del
NM_018006.5(TRMU):c.1019-1G>A rs773484808
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) rs138586787
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn) rs760435544
NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile) rs760435544
NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs) rs2147124401
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) rs2078020035
NM_018006.5(TRMU):c.229T>C (p.Tyr77His) rs118203990
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.256T>C (p.Leu86=) rs2078169664
NM_018006.5(TRMU):c.271A>G (p.Lys91Glu) rs886057610
NM_018006.5(TRMU):c.27C>T (p.Cys9=) rs1297282365
NM_018006.5(TRMU):c.289C>T (p.Pro97Ser) rs886042713
NM_018006.5(TRMU):c.2T>A (p.Met1Lys) rs118203992
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
NM_018006.5(TRMU):c.333dup (p.His112fs) rs756600903
NM_018006.5(TRMU):c.356-2_356-1del rs2147053913
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp) rs2078260817
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser) rs2078383974
NM_018006.5(TRMU):c.652-2A>G
NM_018006.5(TRMU):c.653G>T (p.Ser218Ile) rs1601977105
NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)
NM_018006.5(TRMU):c.705+10G>A rs1440658479
NM_018006.5(TRMU):c.706-1G>A rs778799889
NM_018006.5(TRMU):c.711dup (p.Gln238fs)
NM_018006.5(TRMU):c.758T>C (p.Leu253Pro) rs766314948
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.773-1G>C
NM_018006.5(TRMU):c.815G>A (p.Gly272Asp) rs118203991
NM_018006.5(TRMU):c.82+8G>A rs1601929107
NM_018006.5(TRMU):c.865G>A (p.Val289Met) rs886057611
NM_018006.5(TRMU):c.873+1G>C
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter) rs769668643
NM_018006.5(TRMU):c.880del (p.Arg294fs) rs1490906786
NM_018006.5(TRMU):c.882del (p.Thr295fs)
NM_018006.5(TRMU):c.941C>T (p.Ala314Val) rs760149424
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) rs150128284
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242
NM_018006.5:c.[2T>A];[835G>A]
NM_020117.11(LARS1):c.1094C>G (p.Pro365Arg)
NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly) rs1753185601
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
NM_020117.11(LARS1):c.185G>A (p.Gly62Glu) rs745880730
NM_020117.11(LARS1):c.242G>T (p.Gly81Val) rs1561495759
NM_020117.11(LARS1):c.2504A>G (p.Tyr835Cys) rs770802595
NM_020117.11(LARS1):c.2781del (p.Lys927fs)
NM_020117.11(LARS1):c.3325+1del
NM_020117.11(LARS1):c.3377G>A (p.Arg1126Gln)
NM_020117.11(LARS1):c.536A>T (p.His179Leu)
NM_020117.11(LARS1):c.554C>T (p.Pro185Leu) rs1363237554
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)
NM_020117.11(LARS1):c.903del (p.Gln302fs) rs749373022
NM_020117.11(LARS1):c.970T>G (p.Phe324Val) rs1753582790
NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro) rs1562849964
NM_021930.6(RINT1):c.1333+1G>T rs375350359
NM_021930.6(RINT1):c.1853_1858del (p.Val618_Lys619del) rs1554367227
NM_021930.6(RINT1):c.2096GAG[1] (p.Gly700del) rs1304094668
NM_021930.6(RINT1):c.29C>A (p.Ser10Tyr) rs1301146115
NM_021930.6(RINT1):c.604C>T (p.Gln202Ter) rs1562847240

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