ClinVar Miner

List of variants reported as uncertain significance for infantile liver failure

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_018006.4(TRMU):c.-279G>A rs187162795 0.01295
NM_018006.4(TRMU):c.-281G>A rs148373924 0.00662
NM_018006.4(TRMU):c.-87T>C rs184994382 0.00164
NM_018006.5(TRMU):c.238G>A (p.Asp80Asn) rs55952751 0.00145
NM_018006.5(TRMU):c.-147C>A rs190351151 0.00097
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_021930.6(RINT1):c.388G>A (p.Ala130Thr) rs138345617 0.00060
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.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.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_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 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_021930.6(RINT1):c.840-12T>A rs747803201 0.00006
NM_018006.5(TRMU):c.873+11C>T rs373365569 0.00005
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.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_015909.4(NBAS):c.4280C>T (p.Ala1427Val) rs767605543 0.00002
NM_018006.5(TRMU):c.*320A>G rs1476756148 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.96_97del (p.Phe35fs) rs762738569 0.00002
NM_021930.6(RINT1):c.2361G>A (p.Trp787Ter) rs747595808 0.00002
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_015909.4(NBAS):c.4295T>C (p.Val1432Ala) rs769425183 0.00001
NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys) rs370928571 0.00001
NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg) rs766403441 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.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_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)
NM_015909.4(NBAS):c.2092T>C (p.Tyr698His)
NM_015909.4(NBAS):c.270G>C (p.Trp90Cys) rs1664524026
NM_015909.4(NBAS):c.4300G>A (p.Asp1434Asn) rs750091340
NM_015909.4(NBAS):c.4311G>A (p.Trp1437Ter)
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.5465_5467delinsCTT (p.Asn1822_Ile1823delinsThrPhe) rs2148055634
NM_015909.4(NBAS):c.6237-10T>C rs1666790331
NM_015909.4(NBAS):c.632G>T (p.Arg211Ile)
NM_015909.4(NBAS):c.954+4848C>T rs2148627761
NM_018006.4(TRMU):c.-113G>C rs182529223
NM_018006.5(TRMU):c.*105A>G rs2078637723
NM_018006.5(TRMU):c.-35G>A rs775079522
NM_018006.5(TRMU):c.-454_-452del
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.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)
NM_018006.5(TRMU):c.175A>G (p.Arg59Gly) rs2078020035
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.289C>T (p.Pro97Ser) rs886042713
NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)
NM_018006.5(TRMU):c.408A>T (p.Glu136Asp) rs2078260817
NM_018006.5(TRMU):c.624A>T (p.Arg208Ser) rs2078383974
NM_018006.5(TRMU):c.705+10G>A rs1440658479
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.82+8G>A rs1601929107
NM_018006.5(TRMU):c.865G>A (p.Val289Met) rs886057611
NM_018006.5(TRMU):c.941C>T (p.Ala314Val) rs760149424
NM_018006.5(TRMU):c.952C>G (p.Pro318Ala) rs150128284
NM_020117.11(LARS1):c.1094C>G (p.Pro365Arg)
NM_020117.11(LARS1):c.1439A>G (p.Asp480Gly) rs1753185601
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.3377G>A (p.Arg1126Gln)
NM_020117.11(LARS1):c.536A>T (p.His179Leu)
NM_020117.11(LARS1):c.903del (p.Gln302fs) rs749373022
NM_020117.11(LARS1):c.970T>G (p.Phe324Val) rs1753582790
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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