ClinVar Miner

List of variants studied for EEC syndrome and related syndrome by GeneReviews

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_003722.5(TP63):c.1846del (p.Leu616fs) rs113993964
NM_003722.5(TP63):c.1963del (p.Arg655fs) rs797044843
NM_003722.5(TP63):c.325-18456A>C rs113993963
NM_003722.5(TP63):c.518G>A (p.Gly173Asp) rs113993965

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