ClinVar Miner

List of variants reported as likely pathogenic for Maturity onset diabetes mellitus in young by Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr) rs371807951 0.00001
NM_000162.5(GCK):c.1019+20G>A
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn) rs1376631949
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)
NM_000162.5(GCK):c.1190_1253+11dup
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.208+15C>G
NM_000162.5(GCK):c.208G>C (p.Glu70Gln)
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
NM_000162.5(GCK):c.484-11_484-6del
NM_000162.5(GCK):c.579+4del
NM_000162.5(GCK):c.579G>T (p.Gly193=) rs2128821570
NM_000162.5(GCK):c.677T>G (p.Val226Gly)
NM_000162.5(GCK):c.679+5G>A
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
NM_000162.5(GCK):c.680-15C>A rs369345791
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000162.5(GCK):c.863+5G>A
NM_000545.8(HNF1A):c.1501+4A>G
NM_000545.8(HNF1A):c.1501+5G>C rs1399164820
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
NM_000545.8(HNF1A):c.526+5G>A
NM_000545.8(HNF1A):c.955+5G>C
NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)
NM_175914.5(HNF4A):c.225-3C>A

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