ClinVar Miner

List of variants reported as likely benign for maturity-onset diabetes of the young type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002

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