ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 14 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012096.3(APPL1):c.69A>G (p.Leu23=) rs11544592 0.01160
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu) rs61735096 0.01069
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_012096.3(APPL1):c.374-9C>T
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)

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