ClinVar Miner

List of variants in gene combination C12orf43, HNF1A reported as uncertain significance for pancreas disorder

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.*603G>A rs11065390 0.05950
NM_000545.8(HNF1A):c.*5G>A rs112986697 0.00237
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.*864C>T rs750496742 0.00014
NM_000545.8(HNF1A):c.*621C>T rs1026422272 0.00013
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.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>T rs886049035
NM_000545.8(HNF1A):c.*193C>A rs972789249
NM_000545.8(HNF1A):c.*196G>A rs1877471070
NM_000545.8(HNF1A):c.*335C>T rs1877483762
NM_000545.8(HNF1A):c.*39G>C rs758414199
NM_000545.8(HNF1A):c.1769-1G>A rs2135854372
NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg) rs751112023
NM_000545.8(HNF1A):c.1789C>T (p.Leu597=)
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.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1838C>T (p.Ser613Phe)
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)

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