ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant polycystic liver disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.1936-7_1936-5dup rs766716921 0.15112
NM_007214.5(SEC63):c.1936-4C>T rs1456647065 0.00789
NM_007214.5(SEC63):c.*3948A>T rs374547546 0.00283
NM_007214.5(SEC63):c.*1113_*1115del rs541858963 0.00198
NM_007214.5(SEC63):c.*3510T>A rs555871275 0.00097
NM_007214.5(SEC63):c.*3489A>G rs1027018659 0.00096
NM_007214.5(SEC63):c.*1071G>C rs538845937 0.00077
NM_001289104.2(PRKCSH):c.*279G>T rs531001195 0.00072
NM_007214.5(SEC63):c.*1037A>G rs536922747 0.00058
NM_007214.5(SEC63):c.*129G>A rs552904217 0.00058
NM_007214.5(SEC63):c.*936C>T rs141309531 0.00049
NM_007214.5(SEC63):c.*1108A>G rs560882192 0.00048
NM_007214.4(SEC63):c.-237C>T rs563388363 0.00030
NM_007214.5(SEC63):c.*2465C>T rs558416401 0.00030
NM_007214.5(SEC63):c.*358T>C rs529945456 0.00024
NM_007214.5(SEC63):c.*3133C>A rs890357088 0.00023
NM_007214.5(SEC63):c.*1941C>T rs886060944 0.00018
NM_001289104.2(PRKCSH):c.969A>G (p.Glu323=) rs745841943 0.00017
NM_007214.5(SEC63):c.*2624T>C rs368337970 0.00016
NM_007214.5(SEC63):c.*514T>C rs557190642 0.00016
NM_002743.2(PRKCSH):c.-168G>A rs369133175 0.00013
NM_007214.5(SEC63):c.*1920_*1921insC rs886060948 0.00013
NM_007214.5(SEC63):c.*1685A>C rs558069212 0.00012
NM_001289104.2(PRKCSH):c.*329C>A rs959110177 0.00011
NM_001289104.2(PRKCSH):c.-77-2A>C rs201157643 0.00010
NM_007214.5(SEC63):c.*874A>G rs756408316 0.00010
NM_007214.5(SEC63):c.*3819A>G rs1030448903 0.00008
NM_007214.5(SEC63):c.*2131C>T rs935591622 0.00007
NM_001289104.2(PRKCSH):c.*17-12C>G rs968650873 0.00006
NM_007214.5(SEC63):c.*3032A>G rs923296669 0.00006
NM_007214.5(SEC63):c.*3704C>G rs554141897 0.00006
NM_007214.5(SEC63):c.*3772G>A rs886060935 0.00006
NM_001289104.2(PRKCSH):c.*249C>T rs963870626 0.00004
NM_001289104.2(PRKCSH):c.1384C>T (p.Pro462Ser) rs866469235 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_007214.5(SEC63):c.*3210C>T rs570848637 0.00004
NM_007214.5(SEC63):c.*2876T>C rs375514344 0.00003
NM_007214.5(SEC63):c.*3107T>C rs778940501 0.00003
NM_007214.5(SEC63):c.*3116T>C rs994941537 0.00003
NM_001289104.2(PRKCSH):c.*106G>A rs551163875 0.00002
NM_001289104.2(PRKCSH):c.1395C>T (p.Asp465=) rs138505797 0.00002
NM_001289104.2(PRKCSH):c.22C>A (p.Leu8Met) rs747755213 0.00002
NM_007214.5(SEC63):c.*1113T>C rs886060953 0.00002
NM_007214.5(SEC63):c.*2522G>C rs886060943 0.00002
NM_007214.5(SEC63):c.*549C>T rs1251167096 0.00002
NM_007214.5(SEC63):c.910C>A (p.Leu304Ile) rs745328381 0.00002
NM_001289104.2(PRKCSH):c.*321A>G rs1445983867 0.00001
NM_001289104.2(PRKCSH):c.-105T>C rs886054196 0.00001
NM_001289104.2(PRKCSH):c.1197-14G>A rs141301073 0.00001
NM_001289104.2(PRKCSH):c.702G>A (p.Leu234=) rs886054198 0.00001
NM_007214.4(SEC63):c.-215G>A rs532894703 0.00001
NM_007214.5(SEC63):c.*1655G>A rs1261761696 0.00001
NM_007214.5(SEC63):c.*2301A>G rs1288272637 0.00001
NM_007214.5(SEC63):c.*24T>C rs1262061519 0.00001
NM_007214.5(SEC63):c.*2607G>C rs549810875 0.00001
NM_007214.5(SEC63):c.*2783G>A rs1390017904 0.00001
NM_007214.5(SEC63):c.*2833A>C rs886060942 0.00001
NM_007214.5(SEC63):c.*3432dup rs886060939 0.00001
NM_007214.5(SEC63):c.*437A>G rs1786126405 0.00001
NM_007214.5(SEC63):c.1441-9G>T rs767036637 0.00001
NM_007214.5(SEC63):c.374G>A (p.Arg125His) rs765447143 0.00001
NM_007214.5(SEC63):c.452C>T (p.Ala151Val) rs1360860173 0.00001
NM_007214.5(SEC63):c.828+13T>C rs886060955 0.00001
NM_001289104.2(PRKCSH):c.*150C>T rs886054200
NM_001289104.2(PRKCSH):c.1196+6G>T rs958262771
NM_001289104.2(PRKCSH):c.1204G>A (p.Glu402Lys) rs886054199
NM_001289104.2(PRKCSH):c.1254G>A (p.Leu418=) rs1970436642
NM_001289104.2(PRKCSH):c.234C>T (p.Thr78=) rs766897286
NM_001289104.2(PRKCSH):c.393C>T (p.Ala131=) rs780423740
NM_001289104.2(PRKCSH):c.404G>T (p.Arg135Leu) rs886054197
NM_001289104.2(PRKCSH):c.685G>A (p.Val229Ile) rs1423831684
NM_001289104.2(PRKCSH):c.82C>T (p.His28Tyr) rs149258999
NM_001289104.2(PRKCSH):c.888C>T (p.Asp296=) rs1970365646
NM_002743.2(PRKCSH):c.-193G>A rs886054195
NM_007214.5(SEC63):c.*1061G>A rs1786109364
NM_007214.5(SEC63):c.*1343G>A rs886060952
NM_007214.5(SEC63):c.*1420T>G rs1786099842
NM_007214.5(SEC63):c.*1433T>C rs886060951
NM_007214.5(SEC63):c.*1471A>G rs886060950
NM_007214.5(SEC63):c.*1475C>T rs1786097916
NM_007214.5(SEC63):c.*1568G>A rs1386667349
NM_007214.5(SEC63):c.*1650G>A rs1048774131
NM_007214.5(SEC63):c.*1696G>A rs1040060632
NM_007214.5(SEC63):c.*1725G>C rs1786092371
NM_007214.5(SEC63):c.*1760T>C rs1786091763
NM_007214.5(SEC63):c.*1787GTT[1] rs886060949
NM_007214.5(SEC63):c.*1832A>G rs1583715416
NM_007214.5(SEC63):c.*1927_*1932del rs772400721
NM_007214.5(SEC63):c.*1931A>C rs1162139145
NM_007214.5(SEC63):c.*1931dup rs55885857
NM_007214.5(SEC63):c.*1932_*1933insA rs886060946
NM_007214.5(SEC63):c.*1932_*1937del rs886060945
NM_007214.5(SEC63):c.*2041A>G rs1027905260
NM_007214.5(SEC63):c.*2223G>A rs9986549
NM_007214.5(SEC63):c.*2287G>T rs1040000139
NM_007214.5(SEC63):c.*2379G>C rs997269603
NM_007214.5(SEC63):c.*2618C>A rs1409152408
NM_007214.5(SEC63):c.*2704A>G rs1786062150
NM_007214.5(SEC63):c.*273A>C rs1786130714
NM_007214.5(SEC63):c.*2791T>C rs1786060526
NM_007214.5(SEC63):c.*2862A>G rs886060941
NM_007214.5(SEC63):c.*2946C>T rs748298477
NM_007214.5(SEC63):c.*3031del rs34250899
NM_007214.5(SEC63):c.*3031dup rs34250899
NM_007214.5(SEC63):c.*3171G>C rs542434422
NM_007214.5(SEC63):c.*3430A>G rs1040445530
NM_007214.5(SEC63):c.*3434A>G rs886060938
NM_007214.5(SEC63):c.*3456T>C rs1786043838
NM_007214.5(SEC63):c.*3480dup rs56104837
NM_007214.5(SEC63):c.*3705T>G rs886060936
NM_007214.5(SEC63):c.*3800A>G rs886060934
NM_007214.5(SEC63):c.*396T>C rs368205255
NM_007214.5(SEC63):c.*432G>A rs970506593
NM_007214.5(SEC63):c.*432G>T rs970506593
NM_007214.5(SEC63):c.*577C>T rs761474758
NM_007214.5(SEC63):c.-148T>G rs1770753156
NM_007214.5(SEC63):c.1210-7del rs370485907
NM_007214.5(SEC63):c.1441-10C>T rs780555443
NM_007214.5(SEC63):c.1675-15G>C rs886060954
NM_007214.5(SEC63):c.1936-27_1936-26dup rs749125299
NM_007214.5(SEC63):c.1936-4_1936-3insT rs773608064
NM_007214.5(SEC63):c.1936-4_1936-3insTTT rs773608064
NM_007214.5(SEC63):c.1936-7_1936-6dup rs766716921
NM_007214.5(SEC63):c.1936-7dup rs766716921
NM_007214.5(SEC63):c.225-10T>A rs886060958
NM_007214.5(SEC63):c.340-12dup rs886060957
NM_007214.5(SEC63):c.340-8_340-7del rs66526324

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.