ClinVar Miner

List of variants in gene SLC35C1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_018389.5(SLC35C1):c.-88T>G rs546865255 0.00386
NM_018389.5(SLC35C1):c.-653C>T rs150274138 0.00348
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_018389.5(SLC35C1):c.*1322A>G rs148127105 0.00203
NM_018389.5(SLC35C1):c.-633T>G rs566857902 0.00177
NM_018389.5(SLC35C1):c.*647T>C rs372196593 0.00109
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met) rs150215024 0.00068
NM_018389.4(SLC35C1):c.-657C>A rs550333679 0.00067
NM_018389.5(SLC35C1):c.767G>A (p.Arg256His) rs751906696 0.00064
NM_018389.5(SLC35C1):c.534C>T (p.Ile178=) rs149296455 0.00038
NM_018389.5(SLC35C1):c.*1418C>A rs575219836 0.00019
NM_018389.5(SLC35C1):c.706G>A (p.Val236Ile) rs200146272 0.00019
NM_018389.5(SLC35C1):c.1055C>A (p.Pro352His) rs200843978 0.00016
NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile) rs200202916 0.00015
NM_018389.5(SLC35C1):c.*1619C>A rs552263015 0.00014
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018389.5(SLC35C1):c.*1127G>A rs187013469 0.00012
NM_018389.5(SLC35C1):c.*572C>T rs886048318 0.00012
NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe) rs368455704 0.00009
NM_018389.5(SLC35C1):c.607G>A (p.Val203Met) rs368377475 0.00008
NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu) rs771361211 0.00007
NM_018389.5(SLC35C1):c.1025G>T (p.Gly342Val) rs377292146 0.00006
NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys) rs567155861 0.00006
NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg) rs761945760 0.00006
NM_018389.5(SLC35C1):c.890A>G (p.Asn297Ser) rs756683159 0.00006
NM_018389.5(SLC35C1):c.*1156C>T rs886048319 0.00004
NM_018389.5(SLC35C1):c.*1373G>C rs886048320 0.00004
NM_018389.5(SLC35C1):c.*244G>A rs886048316 0.00004
NM_018389.5(SLC35C1):c.1081G>A (p.Ala361Thr) rs371853940 0.00004
NM_018389.5(SLC35C1):c.407A>G (p.Lys136Arg) rs766282342 0.00004
NM_018389.5(SLC35C1):c.754C>G (p.Leu252Val) rs765414779 0.00004
NM_018389.5(SLC35C1):c.820G>A (p.Gly274Ser) rs759064697 0.00004
NM_018389.5(SLC35C1):c.934G>A (p.Val312Met) rs768749954 0.00004
NM_018389.5(SLC35C1):c.*1031G>A rs1476944695 0.00003
NM_018389.5(SLC35C1):c.*1229C>T rs938496129 0.00003
NM_018389.5(SLC35C1):c.*528G>A rs886048317 0.00003
NM_018389.5(SLC35C1):c.*650C>A rs780018107 0.00003
NM_018389.5(SLC35C1):c.1046C>T (p.Pro349Leu) rs777594884 0.00003
NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala) rs769916550 0.00003
NM_018389.5(SLC35C1):c.650C>T (p.Thr217Met) rs764909821 0.00003
NM_018389.5(SLC35C1):c.673G>A (p.Gly225Ser) rs757393960 0.00003
NM_018389.5(SLC35C1):c.766C>T (p.Arg256Cys) rs374599500 0.00003
NM_018389.5(SLC35C1):c.*561C>T rs934108329 0.00002
NM_018389.5(SLC35C1):c.-218G>C rs564660234 0.00002
NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile) rs776527276 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018389.5(SLC35C1):c.*1419A>G rs2085964667 0.00001
NM_018389.5(SLC35C1):c.*1543C>G rs766558309 0.00001
NM_018389.5(SLC35C1):c.*1647T>C rs886048323 0.00001
NM_018389.5(SLC35C1):c.*542A>T rs538005835 0.00001
NM_018389.5(SLC35C1):c.*72G>A rs528884213 0.00001
NM_018389.5(SLC35C1):c.-287C>G rs974599944 0.00001
NM_018389.5(SLC35C1):c.-312T>C rs886048312 0.00001
NM_018389.5(SLC35C1):c.-393C>T rs886048311 0.00001
NM_018389.5(SLC35C1):c.1013C>T (p.Thr338Ile) rs768592798 0.00001
NM_018389.5(SLC35C1):c.1031A>G (p.Glu344Gly) rs759504632 0.00001
NM_018389.5(SLC35C1):c.1053G>T (p.Glu351Asp) rs764451718 0.00001
NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser) rs771587118 0.00001
NM_018389.5(SLC35C1):c.163A>G (p.Met55Val) rs767671094 0.00001
NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val) rs1184839008 0.00001
NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr) rs760741388 0.00001
NM_018389.5(SLC35C1):c.356C>A (p.Pro119His) rs1249225084 0.00001
NM_018389.5(SLC35C1):c.410A>C (p.Tyr137Ser) rs1183848479 0.00001
NM_018389.5(SLC35C1):c.412G>A (p.Val138Ile) rs1235114730 0.00001
NM_018389.5(SLC35C1):c.433G>A (p.Val145Met) rs751986448 0.00001
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) rs886048314 0.00001
NM_018389.5(SLC35C1):c.535G>A (p.Gly179Arg) rs752325595 0.00001
NM_018389.5(SLC35C1):c.662C>T (p.Pro221Leu) rs766191758 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.712G>A (p.Ala238Thr) rs747660149 0.00001
NM_018389.5(SLC35C1):c.812C>T (p.Thr271Met) rs748793953 0.00001
NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr) rs1395133658 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018389.5(SLC35C1):c.841G>A (p.Gly281Ser) rs1410328784 0.00001
NM_018389.5(SLC35C1):c.878C>T (p.Pro293Leu) rs372897536 0.00001
NM_018389.5(SLC35C1):c.902C>T (p.Thr301Met) rs770499899 0.00001
NM_018389.5(SLC35C1):c.974C>T (p.Thr325Met) rs753103441 0.00001
NM_018389.5(SLC35C1):c.983T>C (p.Met328Thr) rs764394629 0.00001
NM_018389.5(SLC35C1):c.997G>A (p.Gly333Ser) rs757642463 0.00001
NM_018389.4(SLC35C1):c.-678A>G rs886048306
NM_018389.5(SLC35C1):c.*1426G>A rs886048321
NM_018389.5(SLC35C1):c.*1582C>T rs189120012
NM_018389.5(SLC35C1):c.*697G>A rs866682376
NM_018389.5(SLC35C1):c.-234T>G rs886048313
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)
NM_018389.5(SLC35C1):c.1021del (p.Arg341fs) rs2134598673
NM_018389.5(SLC35C1):c.1062C>T (p.Pro354=) rs886048315
NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)
NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr) rs2134598996
NM_018389.5(SLC35C1):c.1090G>T (p.Val364Leu) rs1329095261
NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr) rs538320044
NM_018389.5(SLC35C1):c.120G>C (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.120G>T (p.Gln40His) rs1554953091
NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu) rs2085864641
NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val) rs1318213708
NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu) rs1315840820
NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe) rs554958653
NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)
NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu) rs200202916
NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)
NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro) rs2134590175
NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)
NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)
NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro) rs765620583
NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu) rs765620583
NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu) rs374967002
NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)
NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)
NM_018389.5(SLC35C1):c.375C>G (p.Ile125Met) rs747143721
NM_018389.5(SLC35C1):c.377G>A (p.Gly126Asp) rs2085873008
NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_018389.5(SLC35C1):c.40A>G (p.Met14Val) rs775175277
NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)
NM_018389.5(SLC35C1):c.465GCT[3] (p.Leu157_Ser158insLeu) rs2134590716
NM_018389.5(SLC35C1):c.482T>C (p.Leu161Pro) rs778718913
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)
NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)
NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala) rs2085865383
NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)
NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)
NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)
NM_018389.5(SLC35C1):c.640A>G (p.Ile214Val) rs2134597431
NM_018389.5(SLC35C1):c.656T>C (p.Val219Ala) rs2134597499
NM_018389.5(SLC35C1):c.672C>G (p.Asp224Glu) rs528291665
NM_018389.5(SLC35C1):c.674G>A (p.Gly225Asp) rs2134597563
NM_018389.5(SLC35C1):c.679A>G (p.Ile227Val) rs1565043377
NM_018389.5(SLC35C1):c.718A>C (p.Ile240Leu) rs7130656
NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)
NM_018389.5(SLC35C1):c.738C>T (p.Leu246=) rs369955835
NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)
NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)
NM_018389.5(SLC35C1):c.769G>T (p.Asp257Tyr) rs2085936907
NM_018389.5(SLC35C1):c.776C>T (p.Ala259Val) rs1159038048
NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)
NM_018389.5(SLC35C1):c.804G>T (p.Gly268=) rs1327025697
NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_018389.5(SLC35C1):c.854G>A (p.Gly285Glu) rs1377122884
NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)
NM_018389.5(SLC35C1):c.85A>C (p.Asn29His) rs1304558236
NM_018389.5(SLC35C1):c.866A>G (p.Lys289Arg) rs2085939659
NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr) rs2134598263
NM_018389.5(SLC35C1):c.896C>T (p.Ser299Leu) rs2085940384
NM_018389.5(SLC35C1):c.903G>A (p.Thr301=) rs150743224
NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)
NM_018389.5(SLC35C1):c.940TAC[1] (p.Tyr315del) rs760348382
NM_018389.5(SLC35C1):c.956A>C (p.Lys319Thr) rs2134598497
NM_018389.5(SLC35C1):c.969G>C (p.Trp323Cys) rs2085942265
NM_018389.5(SLC35C1):c.983T>G (p.Met328Arg) rs764394629
NM_018389.5(SLC35C1):c.998G>C (p.Gly333Ala) rs2085942864

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