ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome 5

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_001023570.4(IQCB1):c.*218G>A rs552311575 0.00110
NM_001023570.4(IQCB1):c.877-11C>T rs192296154 0.00045
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) rs146580215 0.00036
NM_001023570.4(IQCB1):c.-190C>T rs145282757 0.00032
NM_001023570.4(IQCB1):c.*148T>C rs190963373 0.00026
NM_001023570.4(IQCB1):c.1153G>C (p.Glu385Gln) rs772153735 0.00015
NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln) rs532987681 0.00010
NM_001023570.4(IQCB1):c.*151T>C rs1019317263 0.00009
NM_001023570.4(IQCB1):c.1123C>A (p.His375Asn) rs137890014 0.00009
NM_001023570.4(IQCB1):c.-12-4A>T rs760242984 0.00008
NM_001023570.4(IQCB1):c.1324G>T (p.Ala442Ser) rs780327292 0.00008
NM_001023570.4(IQCB1):c.1727T>C (p.Ile576Thr) rs150073223 0.00007
NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=) rs373762948 0.00006
NM_001023570.4(IQCB1):c.1129+13A>G rs371443898 0.00004
NM_001023570.4(IQCB1):c.1151G>A (p.Arg384Gln) rs773223673 0.00004
NM_001023570.4(IQCB1):c.118C>T (p.Pro40Ser) rs750396752 0.00004
NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln) rs778777318 0.00004
NM_001023570.4(IQCB1):c.1594G>A (p.Gly532Arg) rs149207095 0.00004
NM_001023570.4(IQCB1):c.348A>G (p.Leu116=) rs139299149 0.00004
NM_001023570.4(IQCB1):c.458T>C (p.Leu153Ser) rs368772723 0.00004
NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg) rs376700204 0.00004
NM_001023570.4(IQCB1):c.1279G>A (p.Ala427Thr) rs776989189 0.00003
NM_001023570.4(IQCB1):c.1567+3A>G rs1403759372 0.00003
NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile) rs1001594561 0.00003
NM_001023570.4(IQCB1):c.714T>C (p.Ala238=) rs886057828 0.00003
NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) rs141949168 0.00003
NM_001023570.4(IQCB1):c.904C>G (p.Gln302Glu) rs756776335 0.00003
NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val) rs143553764 0.00002
NM_001023570.4(IQCB1):c.1046A>G (p.Lys349Arg) rs200158965 0.00002
NM_001023570.4(IQCB1):c.1271A>G (p.Gln424Arg) rs545361604 0.00002
NM_001023570.4(IQCB1):c.1334G>A (p.Arg445Gln) rs377265463 0.00002
NM_001023570.4(IQCB1):c.1741G>C (p.Asp581His) rs1283756243 0.00002
NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) rs760296374 0.00002
NM_001023570.4(IQCB1):c.884A>G (p.His295Arg) rs377524012 0.00002
NM_001023570.4(IQCB1):c.*160C>T rs1490063473 0.00001
NM_001023570.4(IQCB1):c.*327T>C rs777172993 0.00001
NM_001023570.4(IQCB1):c.*399A>G rs1466189762 0.00001
NM_001023570.4(IQCB1):c.-179G>A rs1449304531 0.00001
NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp) rs760548277 0.00001
NM_001023570.4(IQCB1):c.1364G>A (p.Arg455Gln) rs766072332 0.00001
NM_001023570.4(IQCB1):c.1420A>G (p.Met474Val) rs764720012 0.00001
NM_001023570.4(IQCB1):c.1505G>A (p.Arg502Gln) rs200367729 0.00001
NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg) rs1390983530 0.00001
NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val) rs542335278 0.00001
NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=) rs1399676175 0.00001
NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr) rs370233738 0.00001
NM_001023570.4(IQCB1):c.532G>A (p.Val178Ile) rs1272185942 0.00001
NM_001023570.4(IQCB1):c.692C>T (p.Thr231Ile) rs1278873318 0.00001
NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly) rs886057826 0.00001
NM_001023570.4(IQCB1):c.880C>G (p.Leu294Val) rs756107852 0.00001
NM_001023570.4(IQCB1):c.952C>G (p.Pro318Ala) rs749043070 0.00001
NM_001023570.4(IQCB1):c.*226T>C rs886057822
NM_001023570.4(IQCB1):c.-154T>G rs886057830
NM_001023570.4(IQCB1):c.-185C>G rs553719849
NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met) rs886057825
NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe) rs777697438
NM_001023570.4(IQCB1):c.1278+7C>T rs112780863
NM_001023570.4(IQCB1):c.1319T>C (p.Leu440Pro) rs749515337
NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr) rs776788131
NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile) rs886057823
NM_001023570.4(IQCB1):c.1567+2_*2del
NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu) rs200719828
NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr) rs1950530790
NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr) rs199775360
NM_001023570.4(IQCB1):c.214C>G (p.Arg72Gly) rs201405662
NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter) rs1372460709
NM_001023570.4(IQCB1):c.491T>C (p.Leu164Pro) rs746194022
NM_001023570.4(IQCB1):c.580A>T (p.Ile194Phe) rs1412812453
NM_001023570.4(IQCB1):c.722A>G (p.His241Arg) rs886057827
NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro) rs1949231887

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