ClinVar Miner

List of variants in gene C12orf43, HNF1A studied for pancreas disorder

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.*438G>A rs1169310 0.30485
NM_000545.8(HNF1A):c.*197G>T rs1169309 0.30438
NM_000545.8(HNF1A):c.*1268G>A rs41279096 0.11781
NM_000545.8(HNF1A):c.*603G>A rs11065390 0.05950
NM_000545.8(HNF1A):c.*214G>A rs191295371 0.00327
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
NM_000545.8(HNF1A):c.*908G>A rs140584786 0.00236
NM_000545.8(HNF1A):c.*939G>A rs751401246 0.00054
NM_000545.8(HNF1A):c.*1070C>T rs568653423 0.00046
NM_000545.8(HNF1A):c.*1312C>T rs56335342 0.00045
NM_000545.8(HNF1A):c.*1044G>A rs1039799815 0.00028
NM_000545.8(HNF1A):c.*170C>T rs547080919 0.00022
NM_000545.8(HNF1A):c.*1165C>T rs927067298 0.00020
NM_000545.8(HNF1A):c.*447T>A rs143731661 0.00019
NM_000545.8(HNF1A):c.*864C>T rs750496742 0.00014
NM_000545.8(HNF1A):c.*621C>T rs1026422272 0.00013
NM_000545.8(HNF1A):c.*267T>C rs571084139 0.00011
NM_000545.8(HNF1A):c.*865G>A rs571134960 0.00011
NM_000545.8(HNF1A):c.*391G>C rs868177605 0.00006
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser) rs753972576 0.00005
NM_000545.8(HNF1A):c.1774T>C (p.Ser592Pro) rs1352126690 0.00002
NM_000545.8(HNF1A):c.*1090T>C rs1045819255 0.00001
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.1780A>G (p.Ser594Gly) rs751112023 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg) rs1877445147 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_000545.8(HNF1A):c.1896A>G (p.Ter632=) rs587778395 0.00001
NM_000545.8(HNF1A):c.*1071G>A rs886049035
NM_000545.8(HNF1A):c.*1071G>T rs886049035
NM_000545.8(HNF1A):c.*193C>A rs972789249
NM_000545.8(HNF1A):c.*193C>T rs972789249
NM_000545.8(HNF1A):c.*196G>A rs1877471070
NM_000545.8(HNF1A):c.*267T>G rs571084139
NM_000545.8(HNF1A):c.*335C>T rs1877483762
NM_000545.8(HNF1A):c.*39G>C rs758414199
NM_000545.8(HNF1A):c.*39G>T rs758414199
NM_000545.8(HNF1A):c.*589C>T rs55962050
NM_000545.8(HNF1A):c.1769-1G>A rs2135854372
NM_000545.8(HNF1A):c.1772_1773del (p.Ser591fs) rs2135854397
NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg) rs751112023
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.1786del (p.Val596fs) rs2135854461
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
NM_000545.8(HNF1A):c.1802del (p.Ser600_Ser601insTer) rs2135854520
NM_000545.8(HNF1A):c.1803dup (p.Asp602fs) rs2135854526
NM_000545.8(HNF1A):c.1810A>G (p.Ser604Gly)
NM_000545.8(HNF1A):c.1812C>G (p.Ser604Arg)
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs) rs1555212747
NM_000545.8(HNF1A):c.1822_1823del (p.Ser608fs) rs2135854597
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
NM_000545.8(HNF1A):c.1840_1841del (p.Asn614fs) rs2135854670
NM_000545.8(HNF1A):c.1853_1854del (p.Ile618fs)
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) rs137853241
NM_000545.8(HNF1A):c.1864A>C (p.Ile622Leu)
NM_000545.8(HNF1A):c.1864_1890dup (p.Ser630_Gln631insIleSerThrGlnMetAlaSerSerSer) rs2135854764
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_000545.8(HNF1A):c.1873C>T (p.Gln625Ter) rs1057473810
NM_000545.8(HNF1A):c.1877T>A (p.Met626Lys)
NM_022895.3(C12orf43):c.*3089_*3099del

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.