ClinVar Miner

List of variants studied for Maturity-onset diabetes of the young type 2 by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp) rs954171452
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs) rs1583592247
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter) rs780612692
NM_000162.5(GCK):c.501G>C (p.Trp167Cys) rs1470521850
NM_000162.5(GCK):c.917T>A (p.Leu306Gln) rs193922337

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