ClinVar Miner

List of variants in gene PAX4 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.562+95_562+96insC rs3835004 0.74696
NM_001366110.1(PAX4):c.145-136G>C rs698406 0.74677
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.436+79C>T rs594141 0.69339
NM_001366110.1(PAX4):c.772-62C>T rs327518 0.30151
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_001366110.1(PAX4):c.436+76G>A rs537972 0.05344
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_001366110.1(PAX4):c.645+53G>A rs78594665 0.02800
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02460
NM_001366110.1(PAX4):c.716-42C>T rs117823055 0.00667
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.715+173T>G rs806192
NM_001366110.1(PAX4):c.715+44ATCC[10] rs376039555
NM_001366110.1(PAX4):c.715+44ATCC[12] rs376039555
NM_001366110.1(PAX4):c.772-13dup rs35434068

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