ClinVar Miner

List of variants in gene C12orf43, HNF1A studied for Maturity onset diabetes mellitus in young

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_022895.3(C12orf43):c.*1693C>T rs41279096 0.11781
NM_022895.3(C12orf43):c.*2358C>T rs11065390 0.05950
NM_022895.3(C12orf43):c.*2747C>T rs191295371 0.00327
NM_022895.3(C12orf43):c.*2956C>T rs112986697 0.00237
NM_022895.3(C12orf43):c.*2053C>T rs140584786 0.00236
NM_022895.3(C12orf43):c.*2022C>T rs751401246 0.00054
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.*2514A>T rs143731661 0.00019
NM_022895.3(C12orf43):c.*2097G>A rs750496742 0.00014
NM_022895.3(C12orf43):c.*2340G>A rs1026422272 0.00013
NM_022895.3(C12orf43):c.*2096C>T rs571134960 0.00011
NM_022895.3(C12orf43):c.*2570C>G rs868177605 0.00006
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala) rs928744634 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_022895.3(C12orf43):c.*1871A>G rs1045819255 0.00001
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs) rs1555212747
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs) rs1555212749
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_022895.3(C12orf43):c.*1890C>T rs886049035
NM_022895.3(C12orf43):c.*2372G>A rs55962050
NM_022895.3(C12orf43):c.*2626G>A rs1877483762
NM_022895.3(C12orf43):c.*2694A>C rs571084139
NM_022895.3(C12orf43):c.*2765C>T rs1877471070
NM_022895.3(C12orf43):c.*2768G>A rs972789249
NM_022895.3(C12orf43):c.*2922C>A rs758414199

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