ClinVar Miner

List of variants reported as likely benign for maturity-onset diabetes of the young by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001807.6(CEL):c.132T>C (p.Gly44=) rs543591885 0.00014
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly) rs141978531
NM_012096.3(APPL1):c.374-9C>T

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