ClinVar Miner

List of variants studied for monogenic diabetes by Breakthrough Genomics, Breakthrough Genomics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter) rs2128819357
NM_000162.5(GCK):c.476T>A (p.Ile159Asn)
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506

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