ClinVar Miner

List of variants in gene PAX4 reported as benign for Maturity onset diabetes mellitus in young

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Total variants: 8
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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 0.74681
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74585
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

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