ClinVar Miner

List of variants studied for Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln) rs375269956 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys) rs369459316 0.00004
NM_001366110.1(PAX4):c.179G>A (p.Arg60His) rs370095957 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.771+6C>T rs377152445 0.00001
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120

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