ClinVar Miner

List of variants in gene ISCU studied for not provided

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Gene type:
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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_213595.4(ISCU):c.20T>G (p.Phe7Cys) rs10778648 0.86501
NM_213595.4(ISCU):c.19T>G (p.Phe7Val) rs10778647 0.86084
NM_213595.4(ISCU):c.418+339A>G rs888548 0.83154
NM_213595.3(ISCU):c.-517C>T rs4964725 0.81355
NM_213595.4(ISCU):c.228+271T>C rs10083175 0.78324
NM_213595.4(ISCU):c.418+249C>T rs888546 0.74003
NM_213595.4(ISCU):c.340-60G>T rs10861945 0.73999
NM_213595.3(ISCU):c.-394C>G rs4964726 0.73992
NM_213595.4(ISCU):c.418+310T>C rs888547 0.73171
NM_213595.4(ISCU):c.114+98C>G rs2287556 0.73162
NM_213595.4(ISCU):c.35C>T (p.Ala12Val) rs2287555 0.56452
NM_213595.3(ISCU):c.-42C>T rs2287554 0.30383
NM_213595.4(ISCU):c.340-188A>G rs2075358 0.21702
NM_213595.4(ISCU):c.419-239G>A rs880844 0.18839
NM_213595.4(ISCU):c.418+184A>G rs876161 0.07830
NM_213595.3(ISCU):c.-555A>G rs75704570 0.05151
NM_213595.4(ISCU):c.340-230T>A rs7137157 0.05118
NM_213595.4(ISCU):c.418+158A>G rs12306267 0.04841
NM_213595.4(ISCU):c.418+779G>A rs72643413 0.04633
NM_213595.3(ISCU):c.-101T>C rs58946991 0.04531
NM_213595.4(ISCU):c.*235G>A rs2014227 0.04518
NM_213595.4(ISCU):c.*237A>T rs2014226 0.04515
NM_213595.3(ISCU):c.-490A>G rs11113991 0.03242
NM_213595.4(ISCU):c.419-37C>T rs75320583 0.02977
NM_213595.4(ISCU):c.419-162C>T rs73404738 0.02683
NM_213595.4(ISCU):c.27G>T (p.Leu9=) rs11837563 0.02615
NM_213595.4(ISCU):c.228+210C>T rs147292529 0.01086
NM_213595.4(ISCU):c.419-125T>C rs78129913 0.00893
NM_213595.4(ISCU):c.51G>A (p.Leu17=) rs112552261 0.00804
NM_213595.4(ISCU):c.114+183C>T rs186093048 0.00789
NM_213595.4(ISCU):c.339+142A>G rs114721636 0.00621
NM_213595.4(ISCU):c.115-246G>T rs7980630 0.00488
NM_213595.4(ISCU):c.10G>C (p.Ala4Pro) rs558084375 0.00366
NM_213595.4(ISCU):c.52C>A (p.Leu18Met) rs142514490 0.00291
NM_213595.4(ISCU):c.25C>T (p.Leu9=) rs561720120 0.00102
NM_213595.4(ISCU):c.475C>G (p.Pro159Ala) rs113036584 0.00083
NM_213595.4(ISCU):c.419-12C>T rs200740317 0.00040
NM_213595.4(ISCU):c.448C>T (p.Leu150=) rs11548226 0.00039
NM_213595.4(ISCU):c.39A>C (p.Ala13=) rs533283101 0.00019
NM_213595.4(ISCU):c.229-5T>C rs761922921 0.00014
NM_213595.4(ISCU):c.418+12C>T rs201246305 0.00012
NM_213595.4(ISCU):c.43G>A (p.Ala15Thr) rs752455827 0.00012
NM_213595.4(ISCU):c.32G>C (p.Arg11Pro) rs550874413 0.00011
NM_213595.4(ISCU):c.369A>G (p.Thr123=) rs751918177 0.00010
NM_213595.4(ISCU):c.291C>T (p.Ser97=) rs202085340 0.00006
NM_213595.4(ISCU):c.38C>T (p.Ala13Val) rs751470117 0.00005
NM_213595.4(ISCU):c.145G>A (p.Val49Met) rs371513074 0.00004
NM_213595.4(ISCU):c.229-13G>A rs775507445 0.00004
NM_213595.4(ISCU):c.338_339+2del rs753519258 0.00004
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu) rs267607190 0.00003
NM_213595.4(ISCU):c.14G>C (p.Gly5Ala) rs587780954 0.00003
NM_213595.4(ISCU):c.213C>T (p.Asp71=) rs201875179 0.00003
NM_213595.4(ISCU):c.46C>T (p.Leu16=) rs779184027 0.00003
NM_213595.4(ISCU):c.5C>T (p.Ala2Val) rs770958308 0.00003
NM_213595.4(ISCU):c.9G>A (p.Ala3=) rs774437284 0.00003
NM_213595.4(ISCU):c.144C>T (p.Asn48=) rs368028981 0.00002
NM_213595.4(ISCU):c.150G>A (p.Gly50=) rs1382032819 0.00002
NM_213595.4(ISCU):c.214G>A (p.Val72Ile) rs914914914 0.00002
NM_213595.4(ISCU):c.309A>G (p.Ser103=) rs779222545 0.00002
NM_213595.4(ISCU):c.436A>G (p.Ile146Val) rs369278453 0.00002
NM_213595.4(ISCU):c.115-14C>T rs767898039 0.00001
NM_213595.4(ISCU):c.165A>G (p.Thr55=) rs950571558 0.00001
NM_213595.4(ISCU):c.207T>C (p.Cys69=) rs761837713 0.00001
NM_213595.4(ISCU):c.228+11T>C rs767846973 0.00001
NM_213595.4(ISCU):c.229-15_229-14del rs1396267626 0.00001
NM_213595.4(ISCU):c.22C>T (p.Arg8Cys) rs11548233 0.00001
NM_213595.4(ISCU):c.292G>A (p.Ala98Thr) rs11548230 0.00001
NM_213595.4(ISCU):c.29G>A (p.Arg10Lys) rs745953998 0.00001
NM_213595.4(ISCU):c.306C>G (p.Ser102Arg) rs2030844294 0.00001
NM_213595.4(ISCU):c.314C>G (p.Ala105Gly) rs145206633 0.00001
NM_213595.4(ISCU):c.31C>T (p.Arg11Trp) rs761091987 0.00001
NM_213595.4(ISCU):c.338C>A (p.Thr113Lys) rs749241265 0.00001
NM_213595.4(ISCU):c.339+12C>G rs970594257 0.00001
NM_213595.4(ISCU):c.339G>A (p.Thr113=) rs747904634 0.00001
NM_213595.4(ISCU):c.340-14A>G rs2030938296 0.00001
NM_213595.4(ISCU):c.340-9G>T rs376434967 0.00001
NM_213595.4(ISCU):c.418+382G>C rs767000507 0.00001
NM_213595.4(ISCU):c.419-9T>C rs1334709607 0.00001
NM_213595.4(ISCU):c.444C>T (p.Ala148=) rs764661906 0.00001
NM_213595.4(ISCU):c.463T>C (p.Leu155=) rs780002455 0.00001
NM_213595.4(ISCU):c.49C>T (p.Leu17=) rs746092474 0.00001
NC_000012.11:g.(?_108956399)_(108962692_?)dup
NM_213595.3(ISCU):c.-259delC rs34593223
NM_213595.4(ISCU):c.115-152T>C rs781448429
NM_213595.4(ISCU):c.115-19C>G
NM_213595.4(ISCU):c.118G>C (p.Val40Leu) rs1470808236
NM_213595.4(ISCU):c.129T>C (p.Tyr43=) rs1177091556
NM_213595.4(ISCU):c.12T>G (p.Ala4=) rs560535530
NM_213595.4(ISCU):c.138T>C (p.Pro46=) rs778129767
NM_213595.4(ISCU):c.143A>C (p.Asn48Thr) rs2540776493
NM_213595.4(ISCU):c.15G>A (p.Gly5=) rs753475516
NM_213595.4(ISCU):c.15G>C (p.Gly5=) rs753475516
NM_213595.4(ISCU):c.15G>T (p.Gly5=) rs753475516
NM_213595.4(ISCU):c.17C>T (p.Ala6Val) rs764795692
NM_213595.4(ISCU):c.191T>C (p.Val64Ala) rs2540776652
NM_213595.4(ISCU):c.19_20delinsGG (p.Phe7Gly) rs67681514
NM_213595.4(ISCU):c.19_21delinsGGT (p.Phe7Gly) rs2136708950
NM_213595.4(ISCU):c.223_224del (p.Leu75fs) rs2540776721
NM_213595.4(ISCU):c.228+15T>G rs2136713651
NM_213595.4(ISCU):c.228+172C>T rs10083030
NM_213595.4(ISCU):c.228+18del rs1263405842
NM_213595.4(ISCU):c.228+1G>A rs111663815
NM_213595.4(ISCU):c.229-11C>G
NM_213595.4(ISCU):c.22C>A (p.Arg8Ser) rs11548233
NM_213595.4(ISCU):c.22C>G (p.Arg8Gly) rs11548233
NM_213595.4(ISCU):c.246G>A (p.Lys82=) rs2030840082
NM_213595.4(ISCU):c.264T>G (p.Ala88=)
NM_213595.4(ISCU):c.27G>A (p.Leu9=) rs11837563
NM_213595.4(ISCU):c.27G>C (p.Leu9=) rs11837563
NM_213595.4(ISCU):c.294A>C (p.Ala98=) rs1467682811
NM_213595.4(ISCU):c.30G>A (p.Arg10=) rs776009693
NM_213595.4(ISCU):c.328A>G (p.Lys110Glu) rs1565875446
NM_213595.4(ISCU):c.333A>G (p.Gly111=) rs747686924
NM_213595.4(ISCU):c.336G>C (p.Lys112Asn) rs777792833
NM_213595.4(ISCU):c.338C>T (p.Thr113Met) rs749241265
NM_213595.4(ISCU):c.339+6dup rs863224043
NM_213595.4(ISCU):c.339+7T>C rs2540778493
NM_213595.4(ISCU):c.340-4_340-3del rs758335512
NM_213595.4(ISCU):c.35C>G (p.Ala12Gly) rs2287555
NM_213595.4(ISCU):c.382_383delinsCT (p.Glu128Leu) rs2136719024
NM_213595.4(ISCU):c.399C>G (p.Pro133=) rs1024951229
NM_213595.4(ISCU):c.40T>A (p.Ser14Thr) rs2030653891
NM_213595.4(ISCU):c.418+430G>T
NM_213595.4(ISCU):c.419-11G>C rs761162296
NM_213595.4(ISCU):c.419-16C>T rs2540783822
NM_213595.4(ISCU):c.419-17C>G
NM_213595.4(ISCU):c.419-209C>G rs888549
NM_213595.4(ISCU):c.419-20T>C rs959340263
NM_213595.4(ISCU):c.419-4C>G rs2031020632
NM_213595.4(ISCU):c.419-4C>T
NM_213595.4(ISCU):c.41C>T (p.Ser14Leu) rs750191026
NM_213595.4(ISCU):c.423G>A (p.Leu141=) rs1064797174
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr) rs750338671
NM_213595.4(ISCU):c.498G>C (p.Lys166Asn) rs1426924887
NM_213595.4(ISCU):c.59G>A (p.Ser20Asn) rs1426998960
NM_213595.4(ISCU):c.64C>G (p.Arg22Gly)

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