ClinVar Miner

List of variants in gene PAX4 reported as benign for maturity-onset diabetes of the young

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.*521C>T rs712699 0.74699
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74316
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74220
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) rs114202595 0.00013
NM_001366110.1(PAX4):c.*469TATG[3] rs66998513
NM_001366110.1(PAX4):c.*477_*478insATGT rs200757052
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001366110.1(PAX4):c.772-13dup rs35434068

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