ClinVar Miner

List of variants reported as uncertain significance for monogenic diabetes by MGZ Medical Genetics Center

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe) rs750240747 0.00003
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly) rs1598814989 0.00001
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln) rs149611886 0.00001
NM_000162.5(GCK):c.1270C>T (p.His424Tyr) rs2484493384
NM_000162.5(GCK):c.149A>T (p.His50Leu) rs2484539875
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg) rs2500009172
NM_175914.5(HNF4A):c.50-4682C>T rs755329974

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