ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 11 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.772+17G>A
NM_001715.3(BLK):c.922A>G (p.Ile308Val)

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