ClinVar Miner

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

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_022895.3(C12orf43):c.*2358C>T rs11065390 0.05950
NM_022895.3(C12orf43):c.*2956C>T rs112986697 0.00237
NM_022895.3(C12orf43):c.*1891G>A rs568653423 0.00046
NM_022895.3(C12orf43):c.*1649G>A rs56335342 0.00045
NM_022895.3(C12orf43):c.*1917C>T rs1039799815 0.00028
NM_022895.3(C12orf43):c.*2791G>A rs547080919 0.00022
NM_022895.3(C12orf43):c.*1796G>A rs927067298 0.00020
NM_022895.3(C12orf43):c.*2097G>A rs750496742 0.00014
NM_022895.3(C12orf43):c.*2340G>A rs1026422272 0.00013
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile) rs146855738 0.00006
NM_022895.3(C12orf43):c.*2570C>G rs868177605 0.00006
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser) rs753972576 0.00005
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_022895.3(C12orf43):c.*1871A>G rs1045819255 0.00001
NM_000545.8(HNF1A):c.1769-1G>A rs2135854372
NM_000545.8(HNF1A):c.1780A>C (p.Ser594Arg) rs751112023
NM_000545.8(HNF1A):c.1803dup (p.Asp602fs) rs2135854526
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs) rs1555212747
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
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.1864_1890dup (p.Ile622_Ser630dup) rs2135854764
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_000545.8(HNF1A):c.1873C>T (p.Gln625Ter) rs1057473810
NM_022895.3(C12orf43):c.*1890C>A rs886049035
NM_022895.3(C12orf43):c.*2626G>A rs1877483762
NM_022895.3(C12orf43):c.*2765C>T rs1877471070
NM_022895.3(C12orf43):c.*2768G>T rs972789249
NM_022895.3(C12orf43):c.*2922C>G rs758414199

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