ClinVar Miner

List of variants in gene SEC63 reported as benign for Polycystic liver disease 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007214.5(SEC63):c.*1705G>A rs672444 0.97811
NM_007214.5(SEC63):c.*3580G>A rs847120 0.96448
NM_007214.5(SEC63):c.*3431A>C rs592989 0.95947
NM_007214.5(SEC63):c.*3393C>T rs592939 0.95867
NM_007214.5(SEC63):c.-77C>T rs2272884 0.94610
NM_007214.5(SEC63):c.*2662G>A rs513325 0.88235
NM_007214.5(SEC63):c.*123T>A rs503068 0.88225
NM_007214.5(SEC63):c.*1526T>C rs557911 0.88213
NM_007214.5(SEC63):c.*1398A>C rs556907 0.88211
NM_007214.5(SEC63):c.564C>T (p.Asn188=) rs675117 0.87051
NM_007214.5(SEC63):c.*1901A>G rs10872020 0.77629
NM_007214.5(SEC63):c.*3497A>G rs6933329 0.12986
NM_007214.5(SEC63):c.*2811C>T rs74799313 0.04057
NM_007214.5(SEC63):c.*3334C>T rs112894937 0.03601
NM_007214.5(SEC63):c.1666G>A (p.Val556Ile) rs17854547 0.03299
NM_007214.5(SEC63):c.*3170C>T rs12529777 0.01848
NM_007214.5(SEC63):c.2027C>T (p.Thr676Ile) rs61733388 0.01749
NM_007214.5(SEC63):c.*3895T>C rs12661966 0.00781
NM_007214.5(SEC63):c.*3128G>A rs114322175 0.00730
NM_007214.5(SEC63):c.*2376A>T rs78776458 0.00729
NM_007214.5(SEC63):c.*256T>C rs111637159 0.00617
NM_007214.5(SEC63):c.*861A>G rs9480810 0.00459
NM_007214.5(SEC63):c.*411C>T rs140498555 0.00417
NM_007214.5(SEC63):c.*3390G>A rs142738269 0.00408
NM_007214.5(SEC63):c.*1839C>G rs150031834 0.00334
NM_007214.5(SEC63):c.*2456G>A rs151325651 0.00328
NM_007214.5(SEC63):c.2134T>C (p.Leu712=) rs61733387 0.00201
NM_007214.5(SEC63):c.*3127C>T rs541730962 0.00166
NM_007214.5(SEC63):c.*3501A>G rs377612532 0.00149
NM_007214.5(SEC63):c.*3498C>T rs577860076 0.00148
NM_007214.5(SEC63):c.*3502C>T rs181941841 0.00138
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) rs146559698 0.00093
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_007214.5(SEC63):c.*2886A>C rs182441835 0.00063
NM_007214.5(SEC63):c.1674T>C (p.Asn558=) rs143570743 0.00060
NM_007214.5(SEC63):c.*2046C>G rs139373195 0.00059
NM_007214.5(SEC63):c.*2086G>C rs550478845 0.00034
NM_007214.5(SEC63):c.*1612T>C rs76842245 0.00018
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_007214.5(SEC63):c.1984A>G (p.Thr662Ala) rs201416954 0.00014
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) rs141211769 0.00012
NM_007214.5(SEC63):c.807G>A (p.Thr269=) rs182467867 0.00009
NM_007214.5(SEC63):c.*907C>T rs571893658 0.00004
NM_007214.5(SEC63):c.1441-5C>T rs370312823 0.00003
NM_007214.5(SEC63):c.*1178T>G rs114792201
NM_007214.5(SEC63):c.*2705T>C rs687374
NM_007214.5(SEC63):c.*3499A>C rs143966094
NM_007214.5(SEC63):c.1210-18dup rs370485907
NM_007214.5(SEC63):c.340-10T>C rs532887617
NM_007214.5(SEC63):c.340-11T>C rs77730234
NM_007214.5(SEC63):c.340-12G>C rs2064201
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.340-6_340-4dup rs142388422
NM_007214.5(SEC63):c.340-9_340-7del rs66526324
NM_007214.5(SEC63):c.979A>G (p.Lys327Glu) rs559390998

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.