ClinVar Miner

List of variants reported as likely pathogenic for EEC syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1012C>T (p.Arg338Cys) rs1404019220
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln) rs121908841
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro) rs774221257
NM_003722.5(TP63):c.679G>A (p.Ala227Thr)
NM_003722.5(TP63):c.739C>T (p.His247Tyr) rs1553856553
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
NM_003722.5(TP63):c.802G>A (p.Glu268Lys) rs2108801803
NM_003722.5(TP63):c.925A>G (p.Asn309Asp)
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840

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