ClinVar Miner

List of variants reported as pathogenic for oocyte maturation defect 4 by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001387263.1(PATL2):c.223-14_223-2del rs751701388 0.00006
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547 0.00003
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378 0.00001
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285 0.00001
NM_001387263.1(PATL2):c.1224+2T>C rs1555385717
NM_001387263.1(PATL2):c.558T>A (p.Tyr186Ter) rs752734259
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001387263.1(PATL2):c.890del (p.Ala297fs)

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