ClinVar Miner

List of variants in gene combination C12orf43, HNF1A reported by Athena Diagnostics Inc

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022895.3(C12orf43):c.*2956C>T rs112986697 0.00237
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.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591

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