ClinVar Miner

List of variants in gene combination ABCC8, LOC110121471 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2292-34T>C rs1800852 0.21889
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.6(ABCC8):c.2414G>A (p.Cys805Tyr) rs1401468345
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp) rs779736828

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