ClinVar Miner

List of variants reported as pathogenic for monogenic diabetes by Mendelics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
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_000207.3(INS):c.188-31G>A rs797045623
NM_000545.8(HNF1A):c.1136del (p.Pro379fs) rs1593060859
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter) rs2146127862
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg) rs2146468685

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