ClinVar Miner

List of variants reported as likely benign for maturity-onset diabetes of the young by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.840G>A (p.Leu280=) rs181559088 0.00006
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000162.5(GCK):c.117G>A (p.Lys39=) rs193922270
NM_000162.5(GCK):c.450C>T (p.Phe150=) rs193922299
NM_000162.5(GCK):c.723G>A (p.Val241=) rs193922324
NM_000209.4(PDX1):c.318G>T (p.Pro106=) rs193922354

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